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Hematopathology > White Cell Disorders > Flashcards

White Cell Disorders Flashcards

1
Q

What is the cell finding in Chediak Higashi?

Defect in?

Associated with?

What makes this disease worse?

A

White cells/PMN with large granules

CHS1 (LYST) gene and lysozyme function; microtubule issues

Occulocutaneous albinism, neuropathy, plt dysfunction

EBV common to start accelerated phase

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2
Q

MYH9 diseases has what findings?

Inheritance pattern?

Finding in WBCs?

A

Large plts, thrombocytopenia, hearing loss, cataracts, and glomerulonpehritis

Auto dom

Dohle bodies: small purple cytoplasmic inclusions; Normal neutorphil function

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3
Q

What is Alder Reilly anomaly?

What do you seein WBCs/special stain?

Neutrophil function?

A

Auto recessive disease; lysosomal enzyme don’t break down muopolysacchardies

Dense metachromatic azurophilic granules in ALL WBCs; PAS+

Normal neutrophil function

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4
Q

What is Pelger-Huet anomaly/micro finding?

Clinical significance?

A

Hypolobated neutrophil; Auto dom disorder lamin B receptor

No significance

DDx: Peudo Pelger Huet cells in MDS (only some hypolobated)

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5
Q

Gaucher disease machophages look like?

Issues with?

A

Tissue paper (folded blue cytoplasm)

Glucorerebroside accumulation and glucocerbrosidase deficency

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6
Q

Niemann-Pick macrophage morphology?

Issue with?

A

Foamy, vacuolated cytoplasm

Sphringomyelin accumulation/ sphingomyelinase deficiency

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7
Q

Atypical lymphocytes associated with?

Cell type?

Morphology?

LGL’s are what kind of cell?

NK/T LGL leukemia (months and cell count)?

A

Infection, EBV, HIV, etc

CD8+ T-cells reacting to infected B-cells

Cytoplasm with edge that is darker and scallops RBCs

LDL: Cyto T and NK with granules (CD3, CD16, CD56+)
>6 months, >2000 cells, cytopenias

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8
Q

Hematogones look like?

Flow markers?

How to seperate from B ALL?

A

Blasts
Cd20, CD10, CD34, TdT+

B ALL has CD10-

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9
Q

Myeloblasts have?

Monoblasts have?

Promyelocyte features?

A

Auer rods (primary granules fused); or granuloles

Mono: Very fine granules, blue gray cytoplasm

Single or bilobed nuclei, hypo or hyper granular cyto with Auer rods

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10
Q

ALL has what PAS staining pattern?

AML staining with Sudan black?

AML nonspecific esterates/ if 2 colors?

A

Lymphoblasts: BLOCK POSITIVITY

Myeloid cells: Weak

Sudan black: Myeloid marker marks lipid

Alpha napthy acetate, alpha napthyl butyrate–NSE

IF 2 COLORS THEN MYELOMONOCYTIC LEUKEMIA

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11
Q

Acute myelomonocytic leukemia definition?
Flow?

What classic clinical finding?

A

>20% blasts (promonocytes count); >20% neutorphils and myeloid precursor, >20% monocytes and promonocytes

Gingival hyperplasia

CD4 +, CD 16+

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12
Q

Acute monoblastic and monocytic leukemia definition?

A

>80% monocytic cells

M5a: 80% >Monocytic cells and monoblasts

M6b: <80% monocytic cells are monoblasts

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13
Q

Pure erythroid leukemia definition, cytoplasmic finding?

Postive stains?

Erytholeukemia requirements?

A

>80% erythroid, >30% erythroblasts, blue cytoplasm with possible vacuoles

E-cadherin, glyophorin, CD71

Trick question:

Now called AML with MDS related changes (>20% BLASTS); or MDS with Excessive blsts (<20% blasts)

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14
Q

Acute megakaryoblastic leukemia definition?

Genes excluded?

Markers?

A

>20% blasts; 50% of blasts must be megakaryoblasts!; BM fibrosis common

t(1;22), inv (3), t(3;3); and Downs syndrome related

EM (platelet preroxidase), CD41, CD61, CD42 +

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15
Q

Good prognosis AML recurrent genetics (3 of them)?

A

t(15;17), t(8;21); inv16

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16
Q

APL has what transolation/genes, cyto findings?

Reason we need to dx quickly?

Phenotype?

Tx?

A

t(15;17)(q22;q12) PML-RARA; see Auer Rods

>20% blasts

DIC

Myeloid +, CD34-, HLA-DR -, CD15-; DO NOT DX ON FLOW ONLY!

All trans retinooic acid and conventional chemo

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17
Q

APL ATRA resistant translocations?

Is there a microglandular variant of APL, what to lok for?

A

t(5;17)(q23;q12); 5-nucleophosmin gene

t(11;17)(q13;q21): 11 nculear matrix associated

t(11;17)(q23;q21); ZBTB16 (PLZF)

YES: bilobed BUTTERFLY CELLS!; same ATRA response

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18
Q

AML t(9;11)(p22q23) is what genes?

What differentiation?

Risk?
Population?

A

MLLT3-KMT2A

MONOCYTIC diff

Intermediate risk

More common in kids

19
Q

AML t(6;9)(p23q34) genes?

Common finding?

Prognosis?

A

DEK-NUP214

INCREASED BASOPHILS
POOR

20
Q

AML inv(3) or t(3;3) genes?
Classic finding?
Prognosis?

A

GATA2-MECOM (EVI1)

Dysplastic hypolobated megas

Poor

21
Q

AML t(1;22) genes?

Cell type?

Population of patients?

DDx?

A

RBM15-MLK1

Megakaryoblasts

Kids under 3

Myeloid leukemia of Downs or Transient abnormal myeloporesis

22
Q

Prognosis of therapy related AML from akylating agents?

Of topoisomerase II inhibitors?

A

Poor!; MDS associated; 3-5 years after

Better; not associated with MDS; Monocytic; better prognosis

23
Q

AML normal karyotype:

NPM1 prognosis?
CEBPA prognosis?
FLT3-IDT?
FLT3 TKD?

A

NPM1; good pronosis IF NO FLT3-IDT
CEBPA: Favorable

FLT3 ITD: Poor and resistance to chemo

FLT3-TKD: Pronosis controversal

24
Q

Who gets BLL?

Where does it present vs TLL?

Prognosis vs TLL?

A

Kids <6 (good prognosis); adults rare and bad

BM and Peripheral blood; TLL as mediastinal mass in kids

Better than TLL

25
Q

B ALL flow markers?

What about CD20?

What about Pax5?

A

TdT+, CD34+, CD10+/-. CD45-, Surface immuno -, Aberrant myeloid markers (eg CD13, CD15, CD33)

Expressed later as Pre B (earlier pro B’s are negative)

Pax5 is positive in B lymphoblastic leukemia

26
Q

B-LBL good prognosis genes, age?

B-LBL poor prognosis, genes and age?

A

t(12;21) ETV6-RUNX6

Hyperploid>50

Age 1-10

Poor: Hypodiploid, t(9;22) BCR-ABL, 11q23 MLL; t(4;11) MLL/AF4, RUNX1 amplification and complex abnormalities

27
Q

t(4;11)

t(12;21)

t(9;22)

In ALL what age group (infant, kids, adult) are the translocations in?

A

t(4;11) infant

t(12;21) kid

t(9;22) adult

28
Q

TLL occurs where?

Immunophenotype?

A

Medistinal mass commonly

TdT+

Variable T-cell marks: Cd1a, CD2, CD3, CD4, CD5, CD7, CD8

CD7 and cCD3+ commonly

CD10+

CD13, 33+

RARE CD117 and CD79a

29
Q

What chr has Alpha and delta TCR?

B TCR?
Gamma?

What genetic finding is rare but commonly seen?

A

A/Delta: 14q11.2

Beta: 7q35

Gamma 7p14

t(7;9) NOTC1 (<1% however)

30
Q

Myeloid neoplasms with eosinophils have what mutations?

Mastocytosis mutation?

A

PDGFRA, PDGFRB, FGFR1

Masto: KIT D816V

31
Q

JAK2 most common mutation?
Associated with?

A

V617F; 5% exon 12 adn 13 issues

PV 95%, ET 50%, PMF 50%

32
Q

Essential thrombocythemia, definition?

Survival?
Mutations?

BM findings?

A

MPN in megakaryocytes, >450e9 platelts/L

Good >80% 5 yr

JAk2 V617F, CLAR 30%, MPL W515L (<5%)

BM: Normocellular, large cluster, hyperlobated megas, NO FIBROSIS

33
Q

PCV criteria?

3 phases?

A

Hemagloblin >16.5 g/dL in med or 16.0 g/dL women, elevated hematocrit >49% men, >48% women or incread RBC mass

Increased BM cellularity with trilineage group but prom erythroids

JAK2 V617F or exon 12 mutation

Phases: Pre, Overt, Spent (decreased RBCs, fibrosis, spleen enlargement)

34
Q

Primary myelofibrosis is important becasue?

Peripheral blood has?

Mutations?

BM?

A

BAD PROGNOSIS

Leukoerythoblastic reaction (blastic immature white and red cells) and tear drop cells

50% JAK2 V617F, CALR 25%, 5% MPL
Pre: Manmyelosis with megakaryocytes with dysplasic >>other MPNs

Fibrotic: Reticulin/collagen fibrosis/ 10-19% blasts=accelerated phase, OSTEOSCLEROSIS

35
Q

ET vs prefibrotic PMF?

A

PMF has more panmyelosis, more dysplastic megs, AND leukoeyrthroblastosis

36
Q

CML has what gene?

Clinical presentaiton?

LAP score in CML?

PB shows?

Do you need BM?

A

t(9;22) BCR-ABL1 fusion; turns on TK

Splenomegaly, anemia, weakness

CML: decreased, LAP increased in other MPNs (old test)

WBC >50,000 with myelocytic cells at all stages of development

Molecular testing needed, BM not needed to dx but to stage (BLASTS)

37
Q

CML chronic phase, accelerated, blast?

Blast has what additional cytogenetic changes?

BM findings?

A

Chronic: <10%

Accelerated 10-19%

Blasts >20% myeloblasts or lymphoblasts with addition changes +Ph, i(17q), +8, +19

BM: Hypercellular, meyloid hyperplasia, Left shift, small clustered hypolobated megs, Pseudo-Gaucher cells (sea blue histeocytes)

38
Q

ABL1 kinase mutations cause?

Is BCR-ABL1 specific for CML?

Major

Minor

u?

A

Resistance to TKI therapy

No seen in ALL and CNL (chronic neutrophilic leukemia?)

Major: 210kd CML

Minor: p190 seen in B-ALL

u: p230 CNL

39
Q

CMML lacks?

What is atypical CML; gene associated?

A

BCR-ABL1 but has peripheral blood monocytosis

Looks like CML but is BCL-ABL1 negative; Dysplasia, SEPBP1

40
Q

MDS needs dysplasia in what %?

BM; hyper/hypocellular in MDS?

Good MDS genetics?
Intermediate?

Poor?

A

At least 10% in one lineage!

Mostly hyper but can be hypo!

Side not: lots of gains and losses of chromosomes

Good: Normal, -Y, del(5q), del (20q)

Interemdiate: other

Poor; >3 abnormalities (complex), Chr7 abnormalities

41
Q

MDS isolated deletion of 5q progonsis?
PB?
BM finding?

Genes that are lost?
Tx?

A

Good!

PB: Macrocytosis and thrombocytosis

BM: Small hypolobated mega
RPS14, SPARC, TN1P1

Lenalidomide

42
Q

MDS in kids:

Findings vs adults?

What cells tend to be dysplastic?

Hyper or hypocellular?

A

More neutropenia, thrombocytopenia than anemia

More neutrophil and megakaryocyte dysplasia

Hypocellular

43
Q

Myelodysplastic/Myeloproliferative neoplasms:

CMML definition?
Mutations?

A

Blood monocytosis >1e9 /L
CD123+ (plasmacytoid dendridic cell); CD13, CD14, CD68, CD64 and CD33 +

ASXL1, TET2, SRSF2, KRAS, NRAS, SETBP1

44
Q

Juvenile myelomonocytic leukemia?

Patient population?
Genes?
Most common cytogenetic?
Hb lab finding?

Associated with?

Drug?
Prognosis?

A

Childhood proliferation of myelonocytic cells
RAS, MAPK, NRAS, KRAS, NF1, CBL, PTPN11

Mono 7 most common

Increased HbF

NF1 or Noonan

Increased sensitivity to GM-CSF

Poor

Hematopathology (8 decks)

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