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Pediatric Pathology > Hematopathology & Hematology > Flashcards

Hematopathology & Hematology Flashcards

1
Q

Which AML does FLT3-ITD mutation play a prognostic role?

A

AML with t(6;9)

Aggressive disease with poor prognosis

Myelomonocytic differentiation

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2
Q

What is true regarding genetic abnormalities in T-ALL?

A

• ~1/3 of T-ALL have translocations involving the TCR
– 14q11.2—alpha and delta
– 7q35—beta
– 7p14-15—gamma

*most issues involve Chr 14 or 7 because this is where the TCR is located

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3
Q

What are the three patterns of HIV related lymphadenopathy?

A

• Follicular hyperplasia

– Irregular GCs, naked GCs, follicle lysis, monocytoid Bcells

*will see follicles throughout the LN and they will be large with weird shapes

• Follicular involution

– Regressed GCs, thin mantle zones, histiocytes,

immunoblasts

*often mistaken for lymphoma but work up will show these are not monoclonal B cells

• Lymphocyte depletion

– Small lymph nodes, no follicles, increased histiocytes, follicular dendritic cells, erythrophagocytosis

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4
Q

Which type of bacteremia can cause increased sulfhemoglobin?

A

Clostridium perfringens bacteremia

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5
Q

What is the pattern of different hemoglobins on alkaline electrophoresis?

HbA α2β2 globin chains, 97% in normal adult
Hb A2 α2δ2 globin chains, 3% in normal adult
HbF α2ϒ2 globin chains, not in normal adult

A

Alkaline gel run on cellulose acetate at pH 8.5 runs from neg to pos

From cathode (+) to anode (-), remember “A Frozen Section Conundrum”

Fast moving (next to +): N, I, H, Barts

A

F

S, D, G, Lepore, India and Hasharon

A2, C, E, O

Slow moving (next to -): Constant spring

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6
Q

What is the anomaly seen here and what word should you associate it with?

A

Alder Reilly Anomaly

Patients lack lysozymal enzymes to break down
mucopolysaccharides (see this word and think this anomaly)
– Mucopolysaccharidoses
(Hurlers, Hunters syndromes)
Dense metachromatic azurophilic granules in all
WBCs, normal neutrophil function, autosomal recessive

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7
Q

Based on this cell, what type of Hodgkin’s lymphoma is this and what is this cell called?

A

Nodular sclerosis with the characteristic lacunar cell

A lacunar cell is a formalin fixation induced retraction artifact

Synctial NS variant is an aggressive form of CHL that often presents at a high stage with bulky mediastinal disease composed of sheets of RS cells and lacunar cells; may undergo focal necrosis

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8
Q

What are the good and bad cytogenetic prognostic factors in MDS?

A
  • Good: Normal, -Y, del(5q), del(20q), TET2 mutations: Acquired somatic mutation, Favorable prognosis
  • Intermediate: Other abnormalities
  • Poor: Complex (>3 abnormalities) or chr 7 abnormalities

Most common cytogenetic abn: complex karyotype (2 or more clonal abnormalities)

2nd most common: 7 or 7q-

3rd most common: isolated 5q

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9
Q

What are the lab findings with mast cell neoplasms?

A
  • Elevated serum tryptase
  • Elevated urine N-methylhistamine (NMH)
  • Elevated urine prostaglandin D2 (PGD2)
  • Histamine levels elevated but nonspecific; hypereosinophilic states also raise histamine

Unlike benign mast cells, express CD25 and CD2 with diminished expression of CD117

Expression of CD25 correlates with the presence of CKIT mutation (most commonly D816V)

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10
Q

What is the percentage of hemoglobins seen in sickle cell trait?

A
  • 35-45% HbS (if not in this range, something else with it!)
  • 50-65% HbA
  • <3% HbA2
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11
Q

What are the three types of hereditary elliptocytosis?

A

HE is AD disease with mutation in spectrin alpha chain so there is a problem with horizontal interactions

1) Common type (most commonly in African Americans)

*Hereditary pyropoikilocytosis is the transient neonatal expression of HE

2) Spherocytic type (double heterozygosity of HS and HE)
3) Stomatocytic type

Common in southeast Asia and caused by specific band 3 protein defect so there is a defect in sodium/potassium permeability of the RBC membrane (confers protection against P vivax)

Also think about Rh null phenotype if you see stomatocytes!

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12
Q

What constitutional hematopoietic deficiency is caused by:

ELA2 mutations (neutrophil elastase) located at 19p12

Is responsible for TWO syndromes

A

Cyclic neutropenia (benign familial neutropenia)

Neutrophil count varies from normal to essentially none in a roughly 21 day cycle

Kostmann Syndrome

Autosomal dominant, may present in neonatal period with omphalitis but progresses to pancytopenia and or leukemia

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13
Q

They can ask you to identify stain in a normal lymph node based on pattern. What stain is this in a normal lymph node?

A

Bcl6

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14
Q

What is the grading system for follicular lymphoma?

A

2008 WHO does not require distinction of grade 1 and 2, considered together to be low grade

  • Grade 1: 0-5 centroblasts/hpf
  • Grade 2: 6-15 centroblasts/hpf
  • Grade 3: >15 centroblasts/hpf

Grade 3A = some residual centrocytes

Grade 3B = no residual centrocytes

*Ki67 may be used as an adjunct in grading (<20% in grades 1-2, >20% in grade 3

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15
Q

What is the diagnostic criteria for diagnosing Acute Myelomonocytic Leukemia?

A

Both myeloid & monocyte precursors

  • >20% blasts
    • Blast count includes promonocytes
  • >20% neutrophils and myeloid precursors
  • >20% monocytes and promonocytes
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16
Q

What is the molecular alteration seen in hepatosplenic T cell lymphoma?

A

Isochromosome 7q

Two variants of hepatosplenic T cell lymphomas are known:

Alpha-beta variant expresses T cell receptors alpha-beta and shows f_emale preponderance_ (younger than 13 yrs. and older than 50 yrs).

Gamma-delta variant expresses T cell receptor gamma-delta chains and is more common in young males. Both variants carry poor prognosis.

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17
Q

What are the EBV positive large B cell neoplasms?

A

Plasmablastic lymphoma–found in HIV people MOSTLY oral cavity and if arising from multicentric Castleman’s, it is also HHV8 positive. Negative for CD56 in contrast to plasmacytoma.

Primary effusion lymphoma–co infection with HHV8; usually immunocompromised

Lymphomatoid granulomatosis

DLBCL associated with chronic inflammation–classically arising in longstanding pyothorax

EBV+ DLBCL of the elderly–usually extranodal; by definition >50 years old

EBV+ DLBCL, NOS–usually in immunodeficiency; if no immunodeficiency by definition under 50yrs old

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18
Q

What is Gaisbock syndrome?

A

Spurious erythrocytosis of dehydration

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19
Q

What RBC morphologic finding is seen in pyrimidine 5’ nucleotidase deficiency?

A

Basophilic stippling

Autosomal recessive disorder characterized by chronic hemolytic anemia associated with prominent RBC basophilic stippling, which is very useful in diagnosing this enzyme deficiency. P5’N-1 deficiency is also implicated in the anemia of lead poisoning and thalassemia with basophilic stippling.

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20
Q

What is Felty syndrome?

A

Triad of RA, splenomegaly and neutropenia

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21
Q

What is the technique for how hemoglobin is usually measured?

A

Commonly measured by cyanohemoglobin/hemoglobin cyanide (HiCN) method

  • Lysed blood dissolved in solution of potassium ferricyanide and potassium cyanide
  • Oxidizes Hb to hemiglobin cyanide (HiCN)
  • Concentration of HiCN measured by spectrophotometry
  • Absorbance at 540nm reflects the amount of Hb

Detects all forms of Hb except sulfhemoglobin (SHb)

Lipidemia and paraproteinemia can falsely raise the hemoglobin measurement

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22
Q

BQ! What additional cytogenetic abnormalities are commonly seen in CML, BLAST PHASE?

A

+ Ph, i(17q), +8, +19

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23
Q

BQ SLIDE!

Name this lesion of the spleen.

A

Littoral Cell Angioma

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24
Q

In therapy related AML, which agents cause:

  • AML 2-3 years after txmt
  • Not assoc with MDS
  • Translocation with 11q23 (MLL) or 21q22 (RUNX1)
  • Better response to therapy
  • Often monocytic
A

Topoisomerase II inhibitors
• Epipodophillotoxins, anthracyclins

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25
Q

What is the formula to calculate MCHC?

A

MCHC = (Hgb/Hct) x 100

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26
Q

What are the acute leukemias that have BETTER prognosis?

A
  • t(15;17) PML/RARalpha
  • t(8;21) RUNX1/RUNX1T1–can aberrantly express CD19
  • inv16 MYH11/CBFbeta–increased abnormal eos

If you see these genetic abnormalities, you can call acute leukemia even if there are less than 20% blasts

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27
Q

1) What disease causes the finding seen and is due to a defect in lysosome formation which causes decreased phagocytosis and
defective microtubule polymerization?

2) What gene in mutated in this disease?
3) What are the manifestations of this disease?

A

1) Chediak-Higashi Syndrome
2) CHS1 (LYST) gene mutations which leads to defect in lysosome formation which causes decreased phagocytosis and defective microtubule polymerization
3) Defect in cells with granules

  • Abnormal WBC & LGL cause infections
  • Melanosomes cause occulocutaneous albinism
  • Neurons cause neuropathy
  • Platelets cause bleeding
  • Accelerated phase, hemophagocytic-like syndrome triggered by viral infection (EBV)
  • PB and BM with large WBC inclusions
    • Made of primary and secondary granules
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28
Q

A hemoglobin electrophoresis with HbS, F and A2 has two possible causes. What are they?

A

1) Combined sickle cell and hereditary persistence of fetal hemoglobin (clinically mild)
2) Combined sickle cell and beta thal (clinically severe)

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29
Q

What is the most common structural abnormality in B-ALL?

A

t(9;22)

Unfavorable finding

190kd most common

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30
Q

What type of tetramers form in alpha thal and beta thal?

A

Alpha thal: β4 (HbH) and ϒ4 (HbBarts) tetramers form

Beta thal: α4 tetramers form

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31
Q

What is the pattern of different hemoglobins on acid electrophoresis?

HbA α2β2 globin chains, 97% in normal adult
Hb A2 α2δ2 globin chains, 3% in normal adult
HbF α2ϒ2 globin chains, not in normal adult

A

Acid gel run on citrate agar at pH 6.0 runs from middle out both directions but remember from cathode (+) to anode (-), remember “Call Surgeon Ask Forgiveness”

O is in the center of the gel

C

S

O

A, A2, D, G, E, Lepore, N, I, H

F, Barts

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32
Q

What is the formula for calculating MCV?

A

MCV = Hct x 10/RBC

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33
Q

What leukemia is commonly associated with leukemia cutis often described as “blueberry muffin babies”?

A

Congenital acute leukemia

Defined as acute leukemia presenting before the age of 4 weeks

Must be distinguished from transient myeloproliferative disorder and leukemoid reaction

Most commonly myeloblastic (65%)

~10% have abnormalities of 11q23 (MLL gene)

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34
Q

What autosomal recessive disorder is characterized by severe thrombocytopenia in neonates secondary to absent megakaryocytes in marrow? What is the mutation?

A

Congenital amegakaryocytic thrombocytopenia (CAMT)

Mutation of the thrombopoietin receptor (MPL) gene

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35
Q

What translocation is associated with B-ALL that is CD10 negative and CD15 positive?

A

t(4;11)

This is the MLL translocation on 11q23 and is very characteristic so need to know for boards!

Usually seen in infants

It is CD10 neg, CD15 pos, POOR prognosis and an association with TOPOISOMERASE INHIBITORS

MLL translocations can occur in AML as well

FLT3+

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36
Q

What are some labs values that are elevated in iron deficiency anemia (other than the usual) that might be helpful to know for boards? Also what is the GOLD STANDARD for dx IDA?

A

Increased labs:

Serum soluble transferrin receptor (SSTR)

*also elevated in erythroid hyperplasia caused by hemolytic anemia, hemorrhage or polycythemia

Zinc protoporphyrin (ZPP)

Free erythrocyte protoporphyrin (FEP)

*Both ZPP and FEP also elevated in lead poisoning and anemia of chronic disease

Gold Standard: Bone marrow biopsy

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37
Q

According to Osler lecture, the boards like to show a gross photo of this spleen. What is this?

A

CLL/SLL

CLL/SLL and large granular cell lymphomas grow in miliary pattern in spleen (white pulp)

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38
Q

What marker in flow cytometry can be used to detect hereditary spherocytosis?

A

eosin-5-maleimade

*HS is AD disease with affected ANK1 (ankyrin) so there is a problem with vertical interactions

Increased MCHC

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39
Q

Which hemoglobinopathy has thalassemic red cell indices and results from mutation in the alpha globin gene stop codon which producing an abnormally long transcript that is easily degraded?

A

Hb Constant spring

*slow moving Hb that is by the negative end in alkaline gel

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40
Q

What is this structure made of?

A

Ribosomes/RNA

showing basophilic stippling

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41
Q

What are the variant translocations in APML that are usually resistant to ATRA?

A

t(5;17)(q23;q12)

• 5 – nucleophosmin gene

t(11;17)(q13;q21)

• 11- nuclear matrix association gene

t(11;17)(q23;q21)

• 11 – ZBTB16 (previously PLZF)

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42
Q

What is the expression of Bcl2 on germinal center B cells in follicular lymphoma due to?

A

BCL2-IGH translocation which is t(14;18)

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43
Q

What lymphoma characteristically involves young men with hepatosplenomegaly and neoplastic cells are most commonly gamma/delta T cells?

A

Hepatosplenic T cell lymphoma

sinusoidal involvement of neoplastic T cells, doesn’t form mass

Usually negative for both CD4 and CD8

Iso7q (non specific also seen in NK/T CL and ALCL) and Trisomy 8

Pics show sinusoids of liver and red pulp of spleen involved by malignant T cells

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44
Q

What is the most common enzyme deficiency in hereditary erythrocyte disorders of the glycolytic pathway?

A

Pyruvate Kinase Deficiency–ECHINOCYTES (BURR CELLS)

Impaired Embden Hofmeyer pathway
– Cannot make ATP, NAD, but increased 2,3 DPG, so there is good O2
carrying
– Fluorescent spot test, screening test
– Quantitative pyruvate kinase assay, confirmatory test
– Autosomal recessive

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45
Q

Many MALT lymphomas have an antigenic stimulation. What infectious etiologies are associated with the following MALTs?

1) Gastric MALT
2) Ocular MALT
3) Immunoproliferative Small Intestine Disease (IPSID)–alpha chain disease)
4) Cutaneous MALT
5) Salivary MALT
6) Thyroid MALT
7) Splenic MZL

A

1) Helicobacter pylori
2) Chlamydophila psittaci
3) Campylobacter jejuni
4) Borrelia burgdorferi
5) Sjogren’s disease
6) Hashimoto’s
7) Hepatitis C

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46
Q

BQ! What hemoglobinopathy should you think of if you have thalassemic indices, increased HbF, and ~15% HbS on alkaline gel?

A

Hemoglobin Lepore

*actual HbS is rarely present in that low of a quantity so think about Lepore

Result of fusion between β and δ chains

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47
Q

What hemoglonins can a co-oximeter measure?

A

4 wavelengths

Can directly measure:

Carboxyhemoglobin (HbCO)–ABG and pulse ox can’t detect

Methemoglobin (Hi)–ABG and pulse ox can’t detect

Oxyhemoglobin

Deoxyhemoglobin

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48
Q

They can ask you to identify stain in a normal lymph node based on pattern. What stain is this in a normal lymph node?

A

CD10

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49
Q

What AML translocation is this:

  • DEK-NUP214
  • Basophilia and multilineage dysplasia
  • Poor prognosis
A

t(6;9) DEK/NUP214

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50
Q

Lymphoproliferative process that presents as spontaneously regressing papules typically isolated to the extremities and has a benign clinical course?

A

Lymphomatoid papulosis aka pseudolymphoma

Primary cutaneous CD30+ T cell lymphoproliferative disorder with wedge shaped dermal infiltrate of atypical lymphocytes and a background of polymorphic inflammatory cells

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51
Q

What drug associated cause of thrombocytopenia is associated with an autoantibody against GPIX component of GPIb/V/IX complex?

A

Quinidine

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52
Q

What hemoglobin chains are defective in Hb D and G?

A

HbD is a BETA chain defect

HbG is an ALPHA chain defect

*D looks like a B and G looks like an A

Clinically normal

Both run with HbS on alklaine gel

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53
Q

CD30 is generally a marker we think about with embryonal carcinoma and ALCL but it can also be positive in what subset of DLBCL and what does CD30 positivity mean when seen in mycosis fungoides?

A

CD30+ in EBV related DLBCL

In MF, CD30+ is associated with transformation

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54
Q

How are aplastic anemias usually treated and what are the causes?

A

70% of cases are idiopathic

10% are due to a medication or toxin

5% are related to viral hepatitis (especially HCV)

Many causes but are mostly T cell mediated autoimmune diseases so most treatment is anti-T cell (ie cyclosporin)

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55
Q

What flow expression of the blasts can help differentiate between acute leukemia in Downs syndrome and transient myeloproliferative disorder (TMD) in Downs?

A

AML Downs: Positive for CD13 and CD11b, negative for CD34

TMD: Negative for CD13 and CD11b, positive for CD34

Somatic mutations in the GATA1 gene in blasts of both TMD and DS associated AML

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56
Q

Who is at highest/lowest risk for developing post transplant lymphoproliferative disorder?

A

PTLD usually within 1st year post transplant, EBV implicated in most

Late (>5 years) post transplant lymphomas are EBV negative and more aggressive

Renal and bone marrow transplants have lowest risk

Heart, lung, liver and bowel have highest risk

Recipient age: children at highest risk

Pretransplant status: EBV negative at highest risk

PTLD clone usually of recipient origin

Often involves the allograft itself

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57
Q

What are the flow cytometry findings in paroxysmal nocturnal hemoglobinuria (PNH)?

A

This disease is a deficiency of the GPI anchored proteins which is best detected by flow.

GPI anchors function to deflect complement mediated destruction

Red blood cells: loss of CD59 (preferred) and CD55

Monocytes: loss of CD14 and CD55; failure to bind FLAER

Granulocytes: loss of CD16 and CD24; failure to bind FLAER

*FLAER (fluorescent aerolysin) is a protein that binds specifically to the GPI anchor. Absence of FLAER binding to WBCs is the most sensitive measure of PNH and can be detected with flow.

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58
Q

What lymphoma has the following ODD immunophenotype?

Negative: B/T/myeloid antigens (CD20, CD79, CD19, CD10, CD3, CD5, CD13, CD14, CD33)

Positive: CD45, CD30, CD38, CD138, EMA, HHV8

A

Primary effusion lymphoma

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59
Q

What is the only ACQUIRED intrinsic hemolytic anemia (all others are hereditary)?

A

PNH

Acquired mutation of the PIG-A gene on the X chromosome which causes decreased GPI anchors.

GPI anchors function to deflect complement mediated destruction so without them there is unchecked complement mediated destruction taking place

*LAP SCORE IS DECREASED! This is one situation other than CML where the LAP score is decreased

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60
Q

What are the hemoglobin percentages in the alpha thals?

A

Silent carriers and alpha thal trait: Normal

HbH (3 missing α chains- β4 tetramers): 20% HbH, 80% HbA

HbBarts (4 missing α chains-ϒ4 tetramers): 100% HbBarts

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61
Q

What chains comprise HbA, HbA2 and HbF?

A

HbA α2β2 globin chains, 97% in normal adult
Hb A2 α2δ2 globin chains, 3% in normal adult
HbF α2ϒ2 globin chains, not in normal adult

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62
Q

They can ask you to identify stain in a normal lymph node based on pattern. What stain is this in a normal lymph node?

A

CD3

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63
Q

This lymphoma usually consists of small lymphocytes with an abundance of clear cytoplasm (“fried eggs”) many of which have bilobed or indented nuclei (“monocytoid”). What is it?

A

Marginal zone lymphoma

Clonal plasma cells are often present; rare intranuclear Dutcher bodies (shown here)

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64
Q

This is a rare finding but when it is seen (neutrophilic erythrophagocytosis), what disease should you think about?

A

Paroxysmal cold hemoglobinuria (PCH)

*IgG biphasic hemolysin (Donath Landsteiner antibody) with Anti-P specificity that causes intravascular hemolysis

DAT is positive with C3 and antibody panel is negative

Occurs in the setting following viral infection or syphilis

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65
Q

If you see stomatocytes, what 3 things should be in the differential?

A

Hereditary stomatocytosis

Alcohol and liver disease

Rh Null phenotype

Others: dilantin and artifact

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66
Q

What is the most common cause of Budd Chiari?

A

Polycythemia vera

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67
Q

What serum marker is elevated in Castleman’s and what are two disease associations that should be remembered for boards?

A

Serum IL6 is elevated

Associated with with Kaposi sarcoma and

POEMS (polyneurophathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin abnormalities)–multicentric Castleman’s

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68
Q

What is Lennert’s lymphoma?

A

Peripheral T-cell Lymphoma : Lymphoepithelioid variant

A distinct morphologic variant of Peripheral T-cell Lymphoma that has numerous epithelioid histiocytes. They are seen in first image as lighter pink areas in between clusters of small lymphocytes. usually occurs in adults and is often at advanced stage at presentation. Prognosis is poor. The neoplastic cells are usually small and lack significant atypia. Occasionally, large atypical lymphocytes may be present. Epithelioid histiocytes can be better appreciated in this high magnification view.

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69
Q

What is this structure made of?

A

Denatured/oxidized hemoglobin

showing Heinz body

Bite cells are sharp bitelike defects in RBCs where a Heinz body has been removed in the spleen

Heinz bodies seen in: G6PD def or unstable hemoglobins (HbH and HbBarts), sulfhemoglobinemia

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70
Q

This type of AML shown accounts for 8-10% of all de novo cases of AML affecting young adults, it HIGHLY chemosensitive, has blasts with pronounced azurophilic granularity sometimes have large (pseudo Chediak-Higashi) granules and Auer rods and has a high rate of activating KIT mutations in relapsed cases.

A

AML with t(8;21) AML1 (RUNX1) and ETO (RUNX1T1) genes

AML1 encodes the alpha chain of core binding factor (CBFalpha)

Immunophenotype: CD34, CD13, CD33, CD56, HLADR and CD19

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71
Q

What stain helps distinguish systemic from cutaneous anaplastic large cell lymphoma?

A

MUC1

Distinguishes systemic anaplastic large cell lymphoma (MUC1+) from cutaneous anaplastic large cell lymphoma (usually MUC1-)

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72
Q

What hemoglobinopathy is the 2nd most common in the world after sickle cell, the CBC shows thalassemic indices and is from a beta 26 glu–>lys mutation?

A

Hemoglobin E

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73
Q

For board purposes, what type of leukemia should be considered in a patient with gingival hyperplasia?

A

Monocytic leukemias

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74
Q

What are the two prognostic groups of CLL/SLL?

A

1) Pre-GC (naive) B-cell type

-unmutated IgVH, CD38+, ZAP70+, associated with 17p (10%) or 11q (25%) deletions, poor prognosis

CD38 and ZAP70 expressed by over 30% of cells correlates with unmutated status

2) Post-GC center type
- mutated IgVH, CD38-, ZAP70-, associated with isolated 13q deletion, good prognosis

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75
Q

If you have 80% erythroid cells, and 10% blasts, is it erythroleukemia?

A

YES!

Confusing criteria! The criteria says you need >50% of nucleated cells should be erythroid and then >20% of THE REMAINING NUCLEATED CELLS should be blasts. In this example, there are only 20% of non-erythroid cells and 10% of them are blast meaning that 50% of the non-erythroid cells are blasts which meets criteria

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76
Q

What is the definition of:

1) AML, NOS minimally differentiated
2) AML, NOS without maturation
3) AML, NOS with maturation

A

1) <3% blasts stain with SBB, MPO and NSE
2) 3-10% of blasts stain with SBB, MPO and NSE
3) >10% of blasts stain with SBB, MPO and NSE

AML, NOS by definition does not have any of the recurrent genetic abnormalities

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77
Q

What neoplasm is positive for cyclin D1 (bcl1) correlating with a t(11;14) translocation other than mantle cell lymphoma?

A

A subset of myeloma patients

*according to recent articles, these patients have standard risk

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78
Q

What AML translocation is this:
• RPM1-EVI1
• Dysplastic small hypolobated megakaryocytes (shown here)

A

inv(3)(q21q26.2)

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79
Q

What lymphoma occurs in the mediastinum and usually affects 20-40yr old women? Patients may have superior vena cava syndrome

A

Mediastinal (thymic) Large B-cell Lymphoma

Immunos/molecular

Lack of surface immunoglobulin by flow

But IgH rearrangement by PCR

CD19 and CD20 +, Bcl-2 and bcl-6 can be +, CD30 + (80%), but weak, CD15 only rarely +, MAL protein +

Alterations in the MAL gene, gains in 9p (the location of JAK2); no rearrangement of BLC2 or BLC6

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80
Q

What conditions decrease osmotic fragility?

A
  • alpha and beta thal trait
  • iron def
  • chronic liver disease
  • hyponatremia
  • sickle cell disease
  • hb C (target cells)
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81
Q

What cytogenetic abnormality is seen in 80% of T-cell prolymphocytic leukemia cases?

A

Inv14

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82
Q

What type of leukemia shown is associated with mediastinal germ cell tumors and I(12p)?

A

Acute Megarkaryoblastic Leukemia (M7)

>50% blasts megakaryocytic either by platelet peroxidase (PPO) technique (electron microscopy with staining for peroxidase) or by flow showing CD41 and CD61.

Note that AML and transient myeloproliferative disorders in Downs syndrome often megakaryoblastic

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83
Q

What hemoglobinopathy shows target cells with crystals and is from a beta 6 glu–>lys mutation?

A

Hemoglobin C

This is a beta chain variant of hemoglobin

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84
Q

BQ! What is the most common mutation in hairy cell leukemia?

A

BRAF

Some info on BRAF:

The BRAF gene on chromosome 7 (7q34) encodes the BRAF protein, which participates in the MAP kinase/ERK signalling pathway. This pathway regulates important cell functions including cellular growth, differentiation, proliferation, senescence and apoptosis.

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85
Q

Other than beta thal trait, what other conditions can cause elevated hemoglobin A2?

A

B12 and folate deficiency

Hyperthyroidism

Antiretroviral therapy

HbC elutes with HbA2 on HPLC so if you have an A2 level >7-8%, should do electrophoresis to see if there is a hemoglobin variant present

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86
Q

What are the different haplotypes in alpha thal?

A

Categorized as α thal 2 (α+ thal) or α thal 1 (α0 thal)

α thal 2 (α+ thal): TRANS–chr16 has one normal and one deleted α gene (-α/-α). Most common genotype in blacks (better prognosis)

α thal 1 (α0 thal): CIS–chr 16 has two deleted α genes (–/αα). Prevalent in Asians (worse prognosis)

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87
Q

BQ! What is alpha heavy chain disease?

A

Appears to be more common than gamma heavy chain disease and involves a younger age group. The uniform clinical pattern in most patients is malabsorption and diarrhea following a massive lymphoplasmacytic infiltration of intestinal mucosa or a histiocytic lymphoma of the intestine. In a few patients, the respiratory tract has been involved instead. Bone marrow and other lymphoid organs are not involved.

Usually, routine protein electrophoresis is negative, but small amounts of alpha chain may be detected in the serum and sometimes in the urine with immunoelectrophoresis. The abnormal protein does not contain light chains. It is most common in Mediterranean areas and is associated with poor living conditions in low socioeconomic groups. Similar to MALT lymphoma, many cases may initiate an infectious antigen-driven proliferation. It also has been referred to as Mediterranean abdominal lymphoma and immunoproliferative small intestine disease (IPSID).

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88
Q

What are the tests used to diagnose G6PD def?

X linked recessive inheritance

A

Normal reticulocyte count–can get false negative results if you test during hemolytic episode because of adequate G6PD in reticulocytes

Fluorescent Spot Test: NADPH fluoresces at 340nm, lost in G6PD def

Quantitative G6PD at 340nm

89
Q

What type of congenital dyserythropoietic anemia is shown here?

A

CDA Type I

Autosomal recessive

CDAN 1 mutation

Thin chromatin bridge between two erythoblast nuclei

EM swiss cheese nuclei

90
Q

What is the translociation seen in LPL/Waldenstrom’s?

A

t(9;14)(p13;q32) involving the PAX5 gene and C region of IgH

*NEW* in the WHO 2008, this has MYD88 L265P mutation which is very specific!

91
Q

What translocation is seen in MALT lymphomas and what are the caveats?

A

t(11;18) MLT and API2 genes

*translocation seen in 25-50% of MALT but they are NOT seen in primary nodal MZL!

Translocation is only seen in extranodal sites

Also not seen in MALT that transformed to DLBCL

if t(11;18) is present in GI MALT, these are resistant to antibiotic therapy so these patients need chemo

92
Q

If you see this “flower” cell, what disease should you think about?

A

Adult T-cell leukemia/lymphoma

Caused by HTLV1

In the skin, shows epidermotropism (like MF–see pic)

Positive for CD25, FOXP3 and CCR4 (regulatory T cell markers)

Mostly CD4+/CD8-

93
Q

What are some of the lab and cytogenetic findings in polycythemia vera?

A
  • EPO low
  • Endogenous erythroid colony formation
  • JAK2 V16F mutation tests

– ~95% of Pvera

– JAK2 involved in stimulating STAT pathway

– most common JAK2 mutation is G to T at nucleotide 1849 resulting in val to phe substitution at codon 617 (Val617Phe)

• JAK2 exon 12 mutations

– Fairly specific for JAK2V617F neg PV

– 3% of all PV patients

• TET2 mutations

– 16% of PV patients

• Isocitrate dehydrogenase mutations (IDH1 and IDH2)

– Seen in blast transormation of PV

94
Q

What cancer can show the following three translocations?

  • t(8;14) (MYC-IGH)
  • t(8;22) (MYC-IGL)
  • t(2;8) (MYC-IGK)
A

Burkitt lymphoma

95
Q

What is considered the “premalignant” condition of nodular lymphocyte predominate Hodgkin lymphoma?

A

PROGRESSIVE TRANSFORMATION OF GERMINAL CENTERS

Large follicles by definition >3X larger than others

May proceed NLPHL

96
Q

What are the main causes of paracortical hyperplasia in a lymph node?

A

• Expansion of paracortex from a T cell immunologic response

– Can be caused by drugs (phenytoin), vaccines and viruses (EBV)

  • Preserved architecture
  • Immunoblasts in a sea of small T cells and histiocytes

– Gives a mottled appearance

– Immunoblasts are large with vesicular chromatin and central nucleoli which are often CD30+ so DON’T confuse with Hodgkin’s!

97
Q

What constitutional hematopoietic deficiency is caused by:

pure red cell aplasia, I antigen is overexpressed on red cells, erythrocyte ADA is INCREASED, HbF is increased, about 75% of pts respond to steroids and it is characterized by a DBA1/RPS19 mutation?

A

Diamond Blackfan syndrome

98
Q

What is this lesion?

A

Dermatopathic lymphadenitis

Often associated with skin disease, benign or malignant (ie MF)

Paracortical hyperplasia composed of interdigitating dendritic cells (S100+, CDa1-), Langerhan cells (S100+, CD1a+), and histiocytes containing melanin

99
Q

What is the name for the autosomal dominant inherited disorders characterized by large platelets, thrombocytopenia, hearing loss, cataracts and glomerulonephritis?

A

MYH9 related disorders

Formally distinct syndromes with some of these findings
– May Hegglin Anomaly
– Sebastian Syndrome
– Fletchner Syndrome
– Epstein Syndrome
WBC contains Dohle body and giant platelets
– In endoplasmic reticulum/ ribosomes made
of RNA (BQR!)
Neutrophil function is normal

100
Q

For boards:

What is the 1) most sensitive, 2) most specific and 3) gold standard test for diagnosing iron deficiency anemia?

A

1) Ferritin (most sensitive)
2) % Iron Saturation aka transferrin saturation (most specific)
3) Bone marrow biopsy (gold standard)

101
Q

What is the percentage of hemoglobins seen in sickle cell disease?

A

Shortened red survival with lifespan of 17 days (normal is 120)

  • >80% HbS
  • 1-2% HbF
  • 1-4% HbA2
  • 0% HbA
102
Q

What is the name of a rare syndrome characterized by sideroblastic anemia with pancreatic insufficiency and is a result of a microdeletion within the mitochondrial DNA?

A

Pearson syndrome

103
Q

Which type of AML can be TdT positive in up to 30%?

A

AML, NOS minimally differentiated

104
Q

What are the acquired causes of pure red cell aplasia?

A

Thymoma (especially spindle cell/medullary/type A), collagen vascular disease, lymphoproliferative disorders of large granular lymphocytes, medications

Parvovirus B19 which gains access to erythroid precursors via the P antigen

105
Q

What lymphoma shown here has been associated with breast implants?

A

Anaplastic Large Cell Lymphoma (ALCL)

The tumor cells are positive for CD30 in a membranous and paranuclear Golgi-type dot pattern. Majority of the systemic cases (70% to 80%) carry t(2;5)(p23;q35) translocation resulting in the formation of NPN-ALK chimeric protein that can be detected by immunohistochemistry.

This photo shows a case associated with breast implants which usually occur in the fibrous capsule adjacent to implant (important to diligent search for in removal).

a. Neoplastic breast cells are large and have clear cytoplasm, large nuclei, and prominent nucleoli.

b, Empty spaces containing unstained refractile material consistent with silicone particles (black arrows) are often in close proximity to the tumor cells (white arrow).

c, Neoplastic cells express CD43

d, Tumor cells are strongly positive for CD30

106
Q

What is the criteria for diagnosing Acute Erythroleukemia?

A

Erythroleukemia M6a

  • > 50% of all nucleated cells erythroid cells
  • >20% of non-erythroid cells are myeloblasts

Pure erythroid leukemia M6b (rare)

  • >80% erythroblasts

Peripheral ANEMIA, not erythrocytosis, with numerous nucleated RBCs

107
Q

What are the FAB classification for ALL?

A

♦ L1 predominates in children. It is characterized by homogeneous small blasts with a very high N:C ratio, scant cytoplasm, and inconspicuous nucleoli. In poor preparations, these lymphoblasts could be confused with normal lymphocytes. L1 comprises 85% of childhood and 31% of adult ALL.
♦ L2 is the most common type in adults. It is characterized by heterogeneous large blasts with irregular, clefted nuclei, moderate cytoplasm, and one or more prominent nucleoli. L2 comprises 14% of childhood and 60% of adult ALL.
♦ L3 is characterized by homogeneous large blasts with deep-blue vacuolated cytoplasm having one or more prominent nucleoli. The leukemic cells bear surface immunoglobulin and lack TdT. L3 is morphologically and immunologically identical to Burkitt lymphoma/leukemia.
♦ Immunophenotyping: B lineage ALL are TdT+, CD10 (CALLA)+, CD34+, CD99+, CD19+ and HLADR+. CD19 is the earliest B-lineage-specific antigen, and lack of reactivity with CD19 excludes B lineage ALL.
♦ Infant and congenital type is typically CD10 NEGATIVE.
♦ T-ALL is positive only for TdT and CD7. It will be obviously negative for all those B cell markers.

108
Q

What are the common translocations for MALT lymphomas in the following sites?

1) Stomach and lung
2) Ocular, parotid and cutaneous
3) Ocular, thyroid and cutaneous
4) Lung and small bowel

A

1) t(11;18) rearrangement of API2 and MALT1 genes
2) t(14;18), MALT1-IgH gene fusion
3) t(3;14) FOXP1-MALT1
4) t(1;14)

*+3 and +18 in all sites

*monoclonal gammopathy is present in 30-50% of cases

109
Q

Adult T cell leukemia/lymphoma caused by HTLV virus has a very characteristic clinical presentation that could be highly testable–what is it?

A

• Endemic in Japan, Caribbean, sub Saharan Africa

Lifetime risk of ATCL in HTLV-1+ people is 5% (7% for infected males, 3% for infected females)

  • Lymphocytosis, skin rash, hypercalcemia, lytic bone lesions
  • Bone marrow, tumor cells plus increased osteoclasts leads to increased bone resorption
  • Lymph node initially involves paracortical T cell zones

Positive for CD2, CD3, CD5, CD4 and CD25 (unique)

Usually negative for CD7 and CD8

110
Q

What is the mutation in Pelger-Huet anomaly?

A

Autosomal dominant disorder with lamin B receptor mutation and nuclear hypolobated PMNs

111
Q

What types of B-ALL have POOR prognosis?

A
  • Hypodiploid
  • t(9:22); BCR/ABL (WORST)
  • 11q23; MLL; t(4;11) MLL/AF4 fusion (FLT3 positive)
  • RUNX1 amplification
  • Complex abnormalities
  • t(1;19) E2A-PBX1 (TCF3-PBX1)
112
Q

They can ask you to identify stain in a normal lymph node based on pattern. What stain is this in a normal lymph node?

A

Bcl2

113
Q

What type of congenital dyserythropoietic anemia is shown here?

A

CDA Type II

AKA “HEMPAS”- Hereditary Erythroblastic Multinuclearity with Positive Acidified Serum test

Autosomal recessive

SEC2B mutation

MOST COMMON CDA Type

Binucleate erythroblasts

RBC agglutination by Anti i and Anti I

SDS page abnormal (band 3 and band 4.5)

Positive acidified serum only with heterologous serum (unlike PNH)

114
Q

What conditions show target cells in peripheral blood?

A

Target cells are due to too much cell membrane (opposite of spherocyte)

Seen in: thalassemia, HbC (“clams”-target cells are folded), liver disease, HbE, HbS and hyperlipidemia

115
Q

On a RBC histogram, how is RDW and MCV determined?

A

MCV is the mean of the red cell distribution

RDW is the co-efficient of variation of the red cell distribution width

The area under the curve is RBC

The red cell indices are often calculated:

Hct = MCV * (RBC/10)

MCHC = (Hb/Hct) * 100

116
Q

What three disorders have increased MCHC?

A

MCHC increased in cold agglutinins, spherocytosis and sickle cell disease

117
Q

What is the most common site of extraosseous plasmacytoma?

A

Upper respiratory tract (80%)

118
Q

BQ! What is the platelet count in iron deficiency anemia?

A

Often INCREASED platelets

119
Q

What is the preferred anticoagulant for a CBC specimen?

A

K2EDTA

120
Q

What syndrome usually affects young females who smoke with a polyclonal IgM hypergammaglobulinemia and no cytopenias and the fast majority are HLADR7 positive?

A

Syndrome of persistent polyclonal B lymphocytosis

121
Q

They can ask you to identify stain in a normal lymph node based on pattern. What stain is this in a normal lymph node?

A

CD21

122
Q

What are the effects of compound sickle cell trait and Beta thal? How about with alpha thal?

A

Sickle cell + alpha thal:

Alpha thal will decrease the severity of disease in this case (SA by itself with show 35-45% HbS, 1 alpha gene deleted will show 30-40% HbS and 2 alpha genes deleted will show 25-35% HbS

Sickle cell + beta thal:

Beta thal in combo with sickle trait increases the disease severity (will show 50% HbS instead of the usual 35-45% with SA by itself)

123
Q

What chromosome and type of mutation is found in 1) beta thal and 2) alpha thal?

A

1) Beta gene on chromosome 11

POINT mutation

2) Alpha gene on chromosom 16

DELETION

124
Q

What is the most common translocation seen in ALK positive ALCL and how can you tell what translocation is present by the staining pattern of ALK?

A

t(2;5) (NMP-ALK)

NPM at 5q35 moves from cytoplasm to nucleolus, so ALK IHC is nuclear and cytoplasmic in this translocation

If you have an ALK+ ALCL but the staining pattern is not nuclear, you have either a t(1;2) ALK-TPM3 (membranous and cytoplasmic) or a t(2;3) ALK-TFG (cytoplasmic only)

ALCL is always CD30+ with intense membranous and paranuclear “target-like” pattern but almost entirely CD15 negative (see pic)

ALK+ (60-85%) patients are younger and do better than ALK negative patients.

125
Q

What 5 T cell lymphomas are CD8+

A

Large Granular Lymphocytic Lymphoma

Enteropathy associated T cell lymphoma

Subpanniculitic T cell lymphoma

Hepatosplenic T cell lymphoma (sometimes)

Extranodal NK/T cell lymphoma

126
Q

What is the most common red cell disorder in people of northern European decent?

A

Hereditary spherocytosis

AD

ANK1 (ankyrin)–problem with vertical interaction

Hereditary elliptocytosis is mutation in spectrion alpha chain or beta or protein 4.1–problem with horizontal interactions

127
Q

What is the criteria for Acute Monoblastic Leukemia?

A
  • >80% of cells are monocytic cells
    • M5a– >80% of monocytic cells are monoblasts
    • M5b– <80% of monocytic cells are monoblasts
128
Q

Which type of B-ALL is associated with eosinophilia?

A

t(5;14) IL3-IGH

129
Q

BQ! What type of MDS is characterized by:

– Hypolobated megas & thrombosis (d/t high plt count)
– due to RPD14 deficiency,
– SPARC, EGR1, CTNNA1 genes may have role

–elderly women

A

MDS w/ isolated 5q deletion

130
Q

What two entities are associated with LPL/Waldenstrom’s?

A

Hepatitis C and cryoglobulinemia

These cases may respond to antiviral therapy

Several lymphomas have plasmacytic features (CLL/SLL, Mantle cell and marginal zone) and LPL is diagnosed when these are excluded

Waldenstrom’s macroglobulinemia is LPL with monoclonal IgM gammopathy and marrow involvement

131
Q

What is your diagnosis?

A

CLL/SLL

Effaced LN with white pseudofollicles (proliferation centers)

GOOD PROGNOSIS: Del(13q)

POOR PROGNOSIS: Trisomy 12, Del(11q), Del(17p)

132
Q

What is the most common T cell lymphoma?

A

Peripheral T cell lymphoma

CD4+, CD8-

133
Q

The picture is showing a dithionate test:

What is this testing for and what does the result in the picture indicate?

BONUS: Trivia fact should remember for boards, what other disease will have a positive result with this test other than the main one being tested for?

A

This is a screening test for sickle cell anemia

The tube on the right is positive because you cannot see through it

BONUS: Hemoglobin C Harlem will also show a positive result!

134
Q

What type of AML shown shows blasts with myelomonocytic differentiation and abnormal eosinophils with large basophilic granules which stain positive with alpha naphthyl acetate esterase, affects younger adults, is chemosensitive and usually NOT associated with peripheral eosinophilia?

A

AML with inv 16 or t(16;16)

Involves MYH11 (myosin) and CBFbeta genes

135
Q

What are the hemoglobin percentages in

1) beta thal minor
2) beta thal intermedia
3) beta thal major
4) δβ thal
5) Hb Lepore

A

1) beta thal minor (β+): HbA ~94%, HbF 0%, HbA2 ~6%

(HbA2 >3.5% is how to tell major from minor)

2) beta thal intermedia: HbA 20%, HbF 80%, HbA2 +/-
3) beta thal major (β0): HbA 0%, HbF 98%, HbA2 ~2%

Intermedia and major are distinguished by the dependance of major on transfusion

4) δβ thal: deletion of δ and β, normal A2 and elevated HbF (5-20%)
5) Hb Lepore: fusion of δβ, normal A2, slightly elevated HbF and a band in the S region comprising 6-15% (Hb Lepore)

136
Q

What is the caveat regarding ALK status of ALCL primary in the skin?

A

The caveat is that in primary skin ALCL, ALK negative has a good prognosis but diagnosis requires clinical correlation.

ALL primary skin ALCL are ALK negative! If you have a skin ALCL that is ALK positive, it is likely secondary from a LN

137
Q

If you see these cells in the peripheral blood, what disease should you pick?

A

Follicular lymphoma

these are buttock cells

138
Q

What is this structure made of?

A

Microtubules/mitotic spindle remnant

showing Cabot Ring

139
Q

This is a special type of primary cutaneous T cell lymphoma that shows neoplastic T cells associated with clusters of epithelioid histiocytes?

A

Lennert lymphoma

This is the lymphoepithelial variant of PCTCL, NOS

140
Q

What is the criteria to diagnose large granular lymphocyte leukemia and what is the classic association?

A

• Criteria

– LGLs > 2 x 109/L in blood

– > 6 months

– No other cause (infxn, drug)

  • Cytopenias
  • Rheumatoid arthritis
  • T-cell phenotype

– CD3+, CD8+, CD56- (more aggresive disease in CD56+ cases with blastlike morphology)

– Cytotoxic markers (+)

141
Q

What is this structure made of?

A

Iron

showing Pappenheimer body

142
Q

What lymphoma is being shown?

A

Subcutaneous Panniculitis-like TCL

One of the CD8+ T cell lymphomas

This is a T cell lymphoma of alpha-beta cells

Cases of γδ cells are re-classified as cutaneous γδ T-cell lymphoma in the 2008 WHO which is more aggresive and usually ulcerated

Indolent disease (80% 5yr survival) unless they develop hemophagocytic syndrome where the median survival is 2yrs

Features: T cells rimming individual adipocytse, karyorrhexis and fat necrosis, foamy histocytes with erythrophagocytosis

143
Q

Of the following lymphomas, what percentage involve the bone marrow and what is the pattern?

1) Follicular lymphoma
2) DLBCL
3) Mantle cell lymphoma
4) Lymphoplasmacytic lymphoma
5) Marginal zone lymphoma
6) Burkitt’s lymphoma
7) CLL/SLL

A

1) Follicular lymphoma: 30-40%, paratrabecular (T cell rich BCL is also paratrabecular)
2) DLBCL: 15%, diffuse
3) Mantle cell lymphoma: 10-20%, nodular
4) Lymphoplasmacytic lymphoma: 10%, interstitial
5) Marginal zone lymphoma: 5%, nodular
6) Burkitt’s lymphoma: 2-5%, diffuse
7) CLL/SLL: nearly always involves BM, diffuse

144
Q

They can ask you to identify stain in a normal lymph node based on pattern. What stain is this in a normal lymph node?

A

IgD mantle zone

145
Q

What lymphoma typically presents as an anterior mediastinal mass with hypercalcemia?

A

T cell lymphoblastic lymphoma

146
Q

Paratrabecular involvement of the bone marrow by lymphoma is only seen in what two lymphomas?

A

Follicular lymphoma

*may be “discordant” with low grade in marrow and high grade in lymph node

T cell rich B cell lymphoma

147
Q

What stain is negative in nodal marginal zone lymphomas but positive in 30% of MALT lymphomas?

A

CD43

148
Q

What lymphoma has the following characteristic finding on EM:

Ribosome lamellar complexes which indicated aberrant protein synthesis

A

Hairy cell leukemia

Immunophenotype: CD11c (bright), CD25 (bright), CD103, annexin A1, cyclin D1 (dim, nuclear), CD19, CD20, CD22, sIg, DBA.44

Negative for CD5, CD43, CD23 and CD10

~10% are CD10, these don’t differ clinically

149
Q

What T cell lymphoma has the unique clinical constellation of findings that include DAT+ AIHA, cold agglutinins, antismooth muscle antibody, rheumatoid factor and polyclonal hypergammaglobulinemia, generalized lymphadenopathy, pruritic skin rash and pleural effusion?

*note clear cells

A

Angioimmunoblastic T cell lymphoma

*has hyperplastic follicular dendritic cells, is EBV associated and EBV will be positive in B cells but not the neoplastic T cells

Unique IHC: remember these are derived from FOLLICULAR T cells so in addition to expressing CD3, CD4 they will also express follicular markers (CD10, bcl6, CXCL3, PD1) and this is one of the only situations where you have CD10 positive T cells and then the FDC proliferation around the vessels will be positive for CD21 and CD23

150
Q

What adversely affects prognosis of mantle cell lymphoma?

A

Mitotic rate >10 mits/hpf

Ki67 staining in >40% of nuclei can be used a surrogate

151
Q

In therapy related AML, which agents cause:

• AML 5-6 years after txmt
• Assoc with MDS
• Genetics similar to MDS
– complex or unbalanced translocations
• Poor prognosis

A

Alkylating agents
• Busulfan, chlormabucil, cyclophosphamide

152
Q

What is the B cell receptor for Ebstein Barr virus?

A

CD21

153
Q

What red cell disorder is a chromosomal breakage syndrome complicated by aplastic anemia, myelodysplasia and/or monocytic/monoblastic AML?

A

Fanconi’s anemia

Autosomal recessive mutation of FANCA, FANCC and FANCG

Macrocytic anemia (or thrombocytopenia) in isolation before pancytopenia emerges

Increased incidence of epithelial malignancies (cutaneous, gastric, hepatocellular)

Absent thumb/radii, microcepahly, renal anomalies (horseshoe), short stature, cafe au lait spots and elevated HbF

*SCREENING TEST* based on known hypersensitivity of FA cells to DNA crosslinking agents (mitomycin C, diepoxybutane, cisplatin) so cells are grown in culture, exposed to agent, and metaphase spread examined for chromosome abnormalities

154
Q

What leukemia is characterized by:

• Poor prognosis
• increased HbF
• In vitro spontaneous formation of granulocyte macrophage colonies that are hypersensitive to GM-CSF is confirmatory
• RAS/NF1/CBL/PTPN11 mutations
• increased in patients with neurofibromatosis 1 (nearly 10% of patients have this) or
Noonan syndrome

A

Juvenile Myelomonocytic Leukemia

155
Q

What AMLs with recurrent cytogenetic abnormalities have:

1) good prognosis
2) intermediate prognosis
3) poor prognosis

A

1) good prognosis

  • t(8;21) RUNX1/RUNX1T1
  • t(15;17) PML/RARA
  • inv16 or t(16;16) MYH11/CBFbeta–increased abn eos

2) intermediate prognosis

  • t(9;11) MLLT3/MLL–children
  • t(1;22) RBM15/MKL1–megakaryocytic like (M7) in infants

3) poor prognosis

  • t(6;9) DEK/NUP214–basophilia, children and adults
  • inv3 or t(3;3) RPN1/EVI1–thrombocytosis, giant agranular platelets
156
Q

How many prolymphocytes are allowed in CLL/SLL?

A

<11%

11-55% prolymphs defined as CLL/PLL

True prolymphocytic leukemia is defined as >55% prolymphs

157
Q

What is the most common translocation seen in DLBCL?

A

bcl6 rearrangement is most common which is t(3;14)–30%

*more common in ABC type

next most common is bcl2 rearrangement t(14;18) which is more common in GCB type–20%

MYC is found 5% of the time–poor prognosis

158
Q

What are the 4 main entities that are positive for CD25?

vague Q I realize but useful info

A

Hairy Cell Leukemia

Adult T-cell leukemia/lymphoma (HTLV related)

Most ALCLs

Neoplastic mast cells

159
Q

What are the syndromes with eosinophilia?

A
  • Well syndrome: eosinophilic cellulitis
  • Loeffler syndrome: eosinophilic pneumonia
  • Shulman syndrome: eosinophilic fasciitis
  • Churg-Strauss syndrome: eosinophilic vasculitis

Interleukin 5 (IL-5) is the cytokine that stumulates the eosinophil lineage

160
Q

What are the following red cell inclusions made of?

1) Howell Jolly bodies
2) Pappenheimer bodies
3) Basophilic stippling
4) Cabot rings
5) Heinz bodies
6) Dohle bodies

A

1) DNA (nuclear remanant)
2) Iron
3) Ribosomes/RNA
4) Microtubule/mitotic spindle remnant
5) denatured/ oxidized hemoglobin
6) rough ER

161
Q

What is this structure made of?

A

Rough ER

showing Dohle body

162
Q

What translocation is associated with B-ALL that is CD10 positive and CD34 negative?

A

t(1;19) E2A-PBX1 (TCF3-PBX1)

Poor prognosis

163
Q

How do you distinguish nodular lymphocyte predominant Hodgkin lymphoma from T cell rich B cell lymphoma?

A

Background in NLPHL:

  • Meshwork of follicular dendritic cells, highlighted by CD21 or CD23 IHC
  • Predominance of CD20+ B cells
  • Wreath of CD3+/CD57+ T cells

Picture is showing:

a) CD3 highlighting rings of T cells encircling neoplastic cells

b) CD21 highlighting residual follicular dendritic cell meshwork

c) CD20 expression by neoplastic cells

d) EMA expression by neoplastic cells

164
Q

If you see this finding of two erythroblast nuclei connected by a thin chromatin bridge, what disorder is this?

A

Congenital dyserythropoietic anemia TYPE 2

165
Q

What disease can falsely lower/elevate B12 levels?

What are the urinary metabolites of folate and B12 deficiency?

A

Falsely lower: HIV, pregnancy, myeloma and heptacorrin deficiency

Falsely elevate: MPN, hepatic insufficiency, renal insufficiency

Folate def urinary metabolite: Increased urinary FIGLU (formiminoglutamic acid)

B12 def urinary metabolite: Increased urinary methylmalonic acid

*B12 also has decreased RBC folate in 2/3 of cases but does not affect the serum folate

166
Q

What are the three techniques for detecting HbF?

A
  • The acid elution technique (KB test)

Heterocellular pattern: fetomaternal hemorrhage and thalassemia

Pancellular pattern: hereditary persistence of fetal hemoglobin

  • The alkali denaturation technique

HbF is resistant to alkali denaturation (in 1.25M NaOH)

HbA is denatured and precipitated out

Optical density of the remaining supernatant reflects the quantity of HbF

  • HPLC provides a highly accurate way of HbF quantification
167
Q

What conditions have a low LAP score? High LAP score?

A

Low LAP score: CML, PNH, some MDS, congenital hypophosphatasia, and neonatal septicemia (LAP paradoxically decreased)

High LAP score: reactive neutrophilia, polycythemia vera, primary myelofibrosis, glucocorticoid administration, and 3rd trimester of pregnancy

168
Q

What are the features of syphilitic lymphadenitis?

A

Similar to RA (follicular hyperplasia plus polytypic plasma cells and neutrophils in sinuses) but also with thickened capsule infiltrated by lymphocytes and plasma cells

169
Q

What AML translocation is this:

11q23 MLL
•Monocytic differentiation
• More common in kids
– 9-12% pediatric AML
– 2% adult AML
• Secondary genetic abnormalities are common
– +8 most common

A

t(9;11) MLLT3/MLL

Intermediate/poor prognosis

Call 911 and who ya gonna get? GHOST MONOs!

Super cheesy, yes, but won’t forget it!

170
Q

What is the definition of plasma cell leukemia and what cytogenetic abnormality does it have a high incidence of?

A

>20% or >2.0 x 109/L plasma cells in the peripheral blood

Half of the cases present de novo

Presents abruptly and follows an aggressive course

High incidence of monosomy 13

Plasma cells often CD56 negative

171
Q

What is the difference in staining patterns between follicular dendritic cell sarcoma and interdigitating dendritic cell sarcoma?

A

FDCS: Follicular dendritic cells are from mesenchymal, not hematopoietic lineage so they will be negative for CD45 and positive for the follicular dendritic markers-Cd21, CD23, CD35 and clusterin. S100 is usually negative.

IDCS: S100 positive, positive for CD45 (it is heme origin) and negative for the follicular dendritic cells markers above.

172
Q

What are the criteria for diagnosing hemophagocytic syndrome and what is elevated in these patients that is HIGHLY specific (hint, not ferritin)?

A

Presence of 5 of the following:

Fever

Splenomegaly

Bicytopenia

Hypertriglyceridemia or Hypofibrinogenemia

Hemophagocytosis

Hyperferritinemia

High sCD25!

173
Q

What two markers are positive in NLPHL in the cells that surround the popcorn (or L&H) cells forming “rosettes”?

A

CD3 and CD57*

*also positive in metanephric adenoma of the kidney and LGL leukemia

174
Q

What has the t(14;18) (IgH-BCL2) translocation?

A

Follicular lymphoma

175
Q

What is the triad seen in Toxoplasma lymphadenitis?

A
  • Follicular hyperplasia
  • Intrafollicular epithelioid histiocytes
  • Monocytoid B-cells in sinuses (see pic)

PCR confirms

176
Q

What is the definition of aplastic anemia?

A

Cytopenias and bone marrow hypocellularity with two of the following:

  • Abnormal neutrophil count <500
  • Plts <20,000
  • Retic <1%
  • BM cellularity <25%
177
Q

What AML translocation is this:
• RBM15-MLK1
• Restricted to infants and children <3 years old
• Megakaryoblasts

*often occurs in Down’s kids

A

t(1;22)(p13q13)

178
Q

If you have an AML with a normal karyotype, what other genetic abnormalities do you have to rule out and what is their significance?

A

Mutations: FLT3 ITD ~30%, NPM ~50%, CEBPA 5-18%
• NPM1 mutation with concurrent FLT-3 wild-type
status is prognostically favorable
• NPM1 mutation with concurrent FLT-3 mutation is
not prognostically favorable
• CEBPA mutation is prognostically favorable

179
Q

What is the most common cytogenetic abnormality in myeloma?

A

Most common abnormality is in 14q32 (IgH)

Most common rearrangment is t(11;14) producing CCND1/IgH fusion

14q32 rearrangment found in >70% of myeloma and 50% of MGUS

180
Q

What type of primary skin B cell lymphoma can you NOT miss?

A

DLBCL, leg type

Most skin B cell lymphomas are indolent and do not need chemo but this one you CAN’T miss because it is rapidly fatal and needs to be treated with chemo

bcl2+ (unlike other primary cutaneous B cell lymphomas)

+ for MUM1, FOXP1 and BCL6

negative for CD10 usually

181
Q

Lesion in 32 yo woman with cervical and groin LAD with prominent follicular hyperplasia.

What is this?

A

SLE Lymphadenitis

Architectural preservation, but follicular hyperplasia with variable sized follicles, increased vascularity, interfollicular immunoblasts and plasma cells.

Often well circumscribed areas of paracortical necrosis with necrosis of small vessels.

Occasionally DNA deposition/hematoxylin bodies (hematoxyphilic material) in stroma, sinuses and blood vessel walls.

May have giant follicles, often disarray of follicular dendritic cell network, no/rare granulomas, no/rare neutrophils.

182
Q

What is the most important prognostic factor in CML, MDS and AML?

A

Response to targeted therapy

*I had in my head it was blast count but this is no longer correct

From compendium: The most powerful prognostic factor in CML is the response to TKI therapy as measured by quantitative RT-PCR

Resistance to imatinib present initially in 5% of cases and emerges during treatment in many more

Resistance often the result of mutations within the BCR-ABL gene; tyrosine kinase domain and the so called P loop

183
Q

What is the most common chromosomal abnormality found in B-ALL?

A

t(9;22)

The p190 variant

associated with POOR prognosis

*for B-ALL, just remember that t(12;21), HYPERdiploidy and ages 1-10yrs are GOOD prognosis and anything else is probably bad

184
Q

In addition to CML, what other entities can have BCR/ABL what basepair length specifically?

A
  • Different length of fusion proteins affect the disease phenotype
  • p190, p210, p230
  • In CML, the fusion protein is usually 210kD and only rarely 190 or 230
  • P230 presents with neutrophilia in chronic neutrophilic leukemia
  • In B-ALL, BCR/ABL is usually p190
185
Q

HPLC is free of many of the limitations posed by electrophoresis. What are two issues though that can arise with HPLC?

A

Can’t reliably separate HbE and HbC (can be accomplished with capillary electrophoresis)

HbC and HbArab can’t be easily separated either

Bilirubin elutes with HbBarts on HPLC

186
Q

Inherited forms of sideroblastic anemia are rare but what is the responsible gene?

A

ALAS2 found on the X chromosome

X linked recessive inheritance

Some cases can be overcome with large doses of pyridoxine (B6)

Another rare form is Pearson syndrome: sideroblastic anemia with pancreatic insufficiency. The molecular defect is a microdeletion within the mitochondrial DNA.

187
Q

They can ask you to identify stain in a normal lymph node based on pattern. What stain is this in a normal lymph node?

A

CD20

188
Q

What are the good/bad prognositc factors in myeloma?

A

Adverse: higher levels of beta 2 microglobulin, high plasma cell labeling index (ki67), high stage

Shortest survival: median 24 months, t(4;14), t(14;16) or 17p13.1 deletion

Intermediate survival: median 42 months, 13q14 deletions alone

Longest survival: median >50 months, no anomalies or only t(11;14)

189
Q

In ALL, what type of translocation is most commonly seen in:

1) infant
2) child
3) adult

A

1) t(4;11)
2) t(12;21)
3) t(9;22)

190
Q

What hemoglobinopathy shows this finding on supravital stain and what is it?

A

Hb H
– Unstable Hb precipitates
– β4 tetramers
– Seen on supravital stain
– Golf ball like inclusions

191
Q

What two lymphomas can be positive for HIV, EBV AND HHV8 (all three)?

A

Plasmablastic lymphoma

(HHV8 positive if arising from multicentric Castleman’s)

Primary effusion lymphoma

(shown here and cytology on question side)

192
Q

What lymphoma is shown here with the prominent proliferation of post capillary venules that is CXCL3 positive?

A

Angioimmunoblastic T cell lymphoma

The clinical presentation includes high-grade fever, rash, anemia, and polyclonal hypergammaglobulinemia. The nodal architecture is effaced by a polymorphic cellular infiltrate and a marked vascular proliferation.

Here is a high-power view showing polymorphic infiltrate composed of small lymphocytes, plasma cells, immunoblasts, and abundant eosinophils. Normal germinal centers are replaced by “burnt-out germinal centers.” Note proliferation of post-capillary venules. The patients are usually middle-aged and elderly. Most cases show monoclonal T-cell receptor gene rearrangements. Patients are at increased risk for secondary lymphomas. Prognosis is poor.

193
Q

What 3 disorders have plasmacytoid CD123 positive dendritic cells?

A

CMML

Castleman’s

Kikuchi-Fujimoto disease

194
Q

What criteria adversely affect prognosis in follicular lymphoma?

A

Higher age and stage

Serum LD

Bone marrow involvement, B symptoms, low performance status and anemia

195
Q

Which myelodysplastic syndrome is associated with hypolobated neutrophil nuclei?

A

MDS with del(17p)

196
Q

What lymphoma seen is angiocentric and angiodestructive, is a lymphoproliferative dz of extranodal sites, and is composed of EBV+ B cells and reactive T cells?

A

Lymphomatoid granulomatosis

It is graded on number of EBV positive cells:

– Grade 1 <5 EBER+ per hpf

– Grade 2 5-20 EBER+ per hpf

– Grade 3 >50 EBER+ per hpf

197
Q

What is the utility of sodium fluoride (NaF) in the cytochemical analysis of blasts?

A

Monoblasts are inhibited by NaF

Erythroblasts and megakaryoblasts resist NaF

All are positive for NSE

198
Q

What is a rare aggressive lymphoma arising in HIV+ patients and mostly arises in extranodal sites (most commonly oral cavity mucosa), is EBV positive and is HHV8 positive if arising from multicentric Castleman’s disease?

Staining pattern: NEGATIVE: CD20, CD45, CD79a, CD30, ALK-1, bcl-1, myeloperoxidase, HMB-45, S-100, AE1/3 and EMA; POSITIVE: CD138 (strong) and kappa light chains (focal cytoplasmic)

A

Plasmablastic lymphoma

Negative for everything except CD138 and cIg and particularly negative for CD56 helps distinguish it from plasmacytoma

*lots of associations here so probably good to know for boards!

199
Q

What medical procedure should be avoided in patients with hereditary stomatocytosis and why?

A

Avoid splenectomy

They THROMBOSE!

200
Q

What types of B-ALL have GOOD prognosis?

A
  • t(12;21) or ETV6-RUNX6 fusion
  • Hyperdiploid > 50
  • Age 2-10
  • Female gender
  • Complete remission following day 14 induction marrow
201
Q

What is the leading cause of death in patients with PNH? What are some other serious complications?

A

Leading cause of death is THROMBOSIS

PNH may evolve into aplastic anemia and/or AML

It may also evolve FROM aplastic anemia

Test for PNH by Ham’s test (a 6 beaker test–on boards if you see 6 beakers, pick PNH or Ham’s test) or flow cytometry

Patients with over 20% type III (completely deficient) red cells or over 50% abnormal granulocytes are at high risk of thrombosis and hemolysis

202
Q

What type of light chains are most commonly seen in

1) AL amyloidosis
2) light chain deposition disease

A

1) lambda light chains
2) kappa light chains

203
Q

What is MDS in a kid called?

A

Refractory cytopenia of childhood

– More neutropenia or thrombocytopenia than anemia

– More neutrophil & mega dysplasia

– Includes RCUD and RCMD

– Many are hypocellular

– Secondary dysplasia (therapy or congenital syndromes like Downs) is more common than primary

204
Q

What heme disorder is a systemic immune complex disease characterized by a distinctive clinical syndrome of palpable purpura (leukocytoclastic vasculitis), arthalgia, hepatosplenomegaly, lymphadenopathy, anemia, sensineural hearing loss and glomerulonephritis?

What is this characteristic EM finding?

A

Cryoglobulinemia

In renal biopsies the most common finding is MPGN and in some cases the deposits produce the appearance of thrombotic microangiopathy.

EM demonstrates subendothelial immune complex deposits with a fibrillary or tubular structure in a fingerprintlike pattern

In all tissues, the basic pathologic process is vasculitis (leukocytoclastic vasculitis shown here)

In blood smears, pale purple cloudy aggregates of protein are observed

205
Q

What is the most common cytogenetic abnormality in CLL/SLL? What is the most common FISH finding?

A

MC cytogenetic abn is trisomy 12 (20%)

By FISH, most common anomaly is deletion on 13q14 (>50%)

*most common overall genetic abnormality in CLL/SLL if asked on test is deletion 13q14–good prognosis

206
Q

What entity has an association with follicular dendritic cell sarcoma?

A

Hyaline vascular variant of Castleman’s disease

207
Q

Reactive lymphocytosis with this morphology is characteristic of what infectious organism? What is the term for these cells?

A

Reider cells of Bordetella pertussis

Irregular nuclear contours some of which are clefted typical of Reider cells

208
Q

What are the drugs that cause B12 and folate deficiency? What are the inherited forms due to? What is malabsorption from?

A

Drugs

Folate: Methotrexate

B12: Dilantin

Inherited

Folate: none

B12: Transcobalamin deficiency

Malabsorpton

Folate: Sprue

B12: Pernicious anemia, postgastrectomy, pancreatic insufficiency, Crohn’s and Diphyllobothrium latum infxn

Folate is the cofactor in methyl transfer reactions (conversion of dUMP to dTMP in DNA synthesis) so folate deficiency leads to impaired DNA synthesis. It is absorbed in the proximal small bowel. No neuro symptoms from deficiency.

B12 is the cofactor for enzymes necessary for the formation of active form of folate (THF). Deficiency leads to accumulation of inactive form, methyl folate (“methyl folate trap”). Bound to R factor in the stomach, released from R factor in the duodenum by pancreatic enzymes and bound to gastric derived intrinsic factor. IF bound B12 is absorbed in the ileum, bound to transcobalamin I and II (TCI and TCII) in enterocytes and exported to the bloodstream.

209
Q

What has the t(11;14) (CCND1-IgH) translocation?

A

Mantle Cell Lymphoma

MCL has tendency to involve Waldeyer’s ring and the GI tract (lymphomatous polyposis)

210
Q

What is the difference between acanthocytes and echinocytes and which one is shown here?

A

Acanthocyte

This is echinocyte (shown here)

Echinocytes: aka burr cells are REGULARLY spaced, seen in pyruvate kinase deficiency, renal disease, drying artifact, and burns

Acanthocytes: aka spur cells, are IRREGULARLY spaced and seen in liver disease, post splenectomy, McCloud syndrome (mutated Kx gene on X, chromosome leads to weak Kell antigens), Abetalipoproteinemia (mutated microsomal triglyceride transfer protein cannot absorb fat from food)

211
Q

Which type of congenital dyserythropoietic anemia is shown here?

A

CAD TYPE 3

Autsomal dominant (others are recessive)

Mutation in CDAN3

GIGANTOBLASTS (multinucleated RBC precursors)

212
Q

What constitutional hematopoietic deficiency is caused by:

SBDS gene mutation, is autosomal recessive (the AR form of SCID), and patients have exocrine pancreas insufficiencies?

A

Shwachman Diamond syndrome

213
Q

What are the features of rheumatoid lymphadenopathy?

A

Follicular hyperplasia plus polytypic plasma cells and neutrophils in sinuses

Increased risk for lymphoma

From path outlines:

  • Follicular hyperplasia with sparse vs. active proliferative activity, interfollicular plasma cells with Russell bodies, vascular proliferation
  • Capsular lymphocytic infiltrate
  • May resemble plasma cell variant of Castleman disease
  • Often PAS+ extracellular hyaline material (shown here)
  • Occasionally focal necrosis and microabscesses
  • May have sarcoid-like granulomas
214
Q

What constitutional hematopoietic deficiency is caused by:

defect in telomerase maintenance involving multiple genes, is X linked recessive, one or more hematopoietic lines is affected and shows pleiotropic effects mimicking premature aging in multiple organ systems?

A

Dyskeratosis congenita

Genes: DKC1 (Xq28) and TERC

X linked recessive

Aplastic anemia, nail dystrophy, reticulated skin pigmentation, oral leukoplakia, lacrimal duct atresia and testicular atrophy

215
Q

What is this characteristic flow finding indicative of?

A

Hematogones

216
Q

What is criteria for Acute Megakaryoblastic Leukemia?

A

> 20% blasts, 50% are megakaryoblasts
*Excludes t(1;22), inv(3), t(3;3) and Down syndrome-related cases

217
Q

What is this structure made of?

A

DNA (nuclear remant)

Showing Howell Jolly Body

218
Q

What conditions should be considered with monocytopenia?

A

Hairy cell leukemia or steroid therapy

In patients undergoing chemotherapy, monocytopenia heralds the onset of neutropenia

Pediatric Pathology (37 decks)

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