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CP Board Review - Hematopathology > White Blood Cell Disorders > Flashcards

White Blood Cell Disorders Flashcards

1
Q

Chediak Higashi Syndrome

A

CHS1 (LYST) gene mutation

Lysosome defect in WBCs and other cells (platelets, neurons, etc.)

Very large inclusions

Poor phagocytosis

Related to albinism

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2
Q

MYH9 Related Disorders

A

May Hegglin (and Sebastion, fletcher,epstein… now all included)

Large Platelets, thrombocytopenia, hearing loss, cataracts, glomerulonephritis

Dohle bodies (endoplasmic reticulum, RNA)

NORMAL FUNCTION

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3
Q

Alder Reilly Anomaly

A

no lysosomes to break down mucopolysaccharides. (Hurler’s, Hunters)

Dense Metachromatic granules
in all WBCs

PAS+

Autosomal Recessive

NORMAL NEUTROPHILS

Can get some of these in MDS, but would not be all the cells

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4
Q

Pelger-Huet anomaly

A

Bi-lobed nucleus neutrophils

neutrophils NORMAL

No clinical significance

Autosomal dominant, with laminin B receptor mutation

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5
Q

AML 15:17 translocation

A

15 : 17 Translocation
Acute Promyelocytic Leukemia
Severe DIC association
Creates fusion protein: PML-RAR alpha blocks maturation beyond promyelocyte
Therapy: Al-trans retenoic acid
Die in 90% cases if not treated. 90% survive with treatment

BI-lobed nucleus

variants:
hyper granular - can have auer rods

micro granular -granules too small my light microscopy (may have auer rods too)

CD13, 33, 117 (typically lack blast markers 34 and DR)
CD2 in micro granular

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6
Q

AML 8:21

A

good prognosis

core binding factor brings core binding factor to eto

associated with M2

CD19, PAX5, CD56

may have less than 20% blasts but still counts

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7
Q

AML Inversion 16

A

good prognosis

core bind factor beta with smooth muscle myosin heavy chain

AML M4 (myelomonocytic with eosinophils)

increase eosinophils (may have basophil granules too)

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8
Q

AML 9:11

A

mixed lineage
monocytes differentiation
seen with trisomy 8
most commonly in kids

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9
Q

AML 6:9

A

dec and muc214
basophilia
multilineage dysplasia
pancytopenia
FLT3
poor prognosis

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10
Q

AML Inversion 3

A

increase bone marrow megakaryocytles hyperlobated

poor prognosis

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11
Q

AML 1:22

A

m7

organomegaly

hepatosplenomegaly

associated with down syndrome

transient abnormal myelopoiesis early in life (does not progress)

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12
Q

ALL 4:11

A

negative for CD10
coexpressions of myeloid antigens

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13
Q

ALL hyper diploid or 12:21

A

children

25% of kids with ALL

good prognosis

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14
Q

ALL 9:22

A

adults (25%)

philadelphia chromosome

poor prognosis

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15
Q

T cell ALL :

A

mutations in T cell receptors

notch1 activating in 50% of pediatric cases - good prognosis

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16
Q

CML 9:22

A

philadelphia chromosome

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17
Q

JAK2 activation

A

tyrosine kinase that intracellular mediates intracellular signaling

ErythroPoietin, Thrombopoietin

polycythemia vera (90%) and others around 50% (ET, PMF)

usually V617F mutation, but a few are exon12 or exon13

not a prognostic marker

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18
Q

CD56

A

Natural Killer Cells

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19
Q

CD3+ , CD4-, CD8-

A

Gamma/Delta T cells

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20
Q

CD 117

A

highly specific for myeloid leukemias

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21
Q

Myeloblasts

A

typically positive for MPO, CD13, CD33, and CD117

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22
Q

Hairy Cell Leukemia

A

Strong CD20+, CD25+, annexing A1 +

bone marrow fibrosis common

monocytosis common

usually no adenopathy

spleen, peripheral blood, bone marrow, and the liver

The phenotype of HCL is CD20 +, CD25 +, CD103 +, and tartrate-resistant acid phosphatase (TRAP) +

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23
Q

Follicular Lymphoma

A

BCL2 rearrangement, CD10 +
t14:18

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24
Q

Burkets Lymphoma

A

MYC rearrangment

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25
Q

Mantle Cell Lymphoma

A

t(11:14)(q13;q32) in CCND1-IGH

26
Q

DLBCL

A

t(3;14)(q27:q32) BCL6-IGH

CD10- (germinal center)

fast grow, necrosis

27
Q

CLL

A

CD5+ , CD23, CD20 dim, low or undetectable Ig light changes

13q- favorable (other changes unfavorable)

commonly transforms to DLBCL (Richter transformation)

28
Q

NK Cells

A

CD 4+ , CD8 - , CD3- , CD56!

29
Q

Gamma Delta Cells

A

CD3+, CD4-, CD8-

30
Q

Mixed Lineage Lymphoma

A

CD10-, CD15+

31
Q

Mycosis fungicides and Sezary syndrom

A

CD2+, CD5+, cd3+, cd4+, loss of CD7
MF - indolent
SS - poor prognosis, depends on PB skin, lymphoma node involved

32
Q

CD45

A

positive on all cells except erythrocytes, so used to do initial gate for white cells

mature express brightly, immature dim

blast gate is low side scatter and dim 45

33
Q

HLH

A

soluble cd25

34
Q

Systemic mastocytocis

A

CD2 or CD25 positive mast cells

Activating mutations of KIT

Elevated serum tryptase

35
Q

Gaucher Disease

A

Tissue paper cytoplasm with striations

Glucoceroroside accumulation

Glucocerorosidase deficiency

36
Q

Niemann-Pick Dz.

A

Foamy macrophages

vacuolated cytoplasm

Sphingomyelin accumulation

Sphingomyelinase deficiency

37
Q

Hematogones

A

Benign B cell Precusors in Bone marrow

recovering marrows, pediatric patients

“Blastlike”

Flow - look for maturation of CD20 (some have it, more get it as they get older)

Versus B-ALL - no loss of CD10

38
Q

Cytochemistry PAS

A
  • PAS for lymphoblasts with block positivity.
  • weakly and diffusely for myeloblasts
39
Q

Cytochemistry Myeloid

A
  • MPO
    • myeloid only
    • enzyme degrades with time
  • Sudan Black B
    • stains lipids for myeloid
  • Non-specific esterase
    • Alpha-naphl butyrate and acetate
    • Monocytes
40
Q

AML with Recurrent cytogenetic abnormalities

A
  • exception to rule of needing 20% blasts
  • t(15:17) PML-RARA
  • RUNX1-RUNX1T1
  • Inv 16
  • AML w/BRC-ABL fusions
41
Q

Acute Myelomonocytic

A
  • both myeloid and monocyte
  • > 20% blasts includes promonocytes
  • > 20% neutrophils and myeloid precussors
  • > 20% monocytes and promonocytles
  • CD4, CD16
  • some cells folded (monocytes), some myeloid
  • Gingival hypertrophy
42
Q

Acute Monoblastic and Monocytic Leukemia

A
  • > 80% of cells are monocytic
    • M5a - > 80% of these are blasts
    • M5b - < 80% of these are blasts
  • Myelomonocytics antigens expressed
43
Q

Pure Erythroid Leukemia

A
  • cytoplasmic vacuoles
  • dark blue cytoplasm
  • positive e-cadhedrin, glycophorin, CD71
  • >80% cells are erythroid
  • >30% erytroblasts
  • No myeloblastic component
    *
44
Q

Acute Megakaryoblastic Leukemia

A
  • 20% blasts, 50% are megakaryoblasts
  • small cytoplasm, blebbing
  • reticulin fibrosis
  • lots of megakaryocytles
  • CD41, CD42, CD 61
45
Q

B-lymphoblastic leukemia lymphoma

A
  • Mostly children < 6 y.o.
  • good prognosis children
  • poor prognosis adults
  • usually presents in PB and BM
  • overall better survival than t-cell
46
Q

B-ALL Phenotype

A
  • Blasts, TdT, CD34
  • B-cell markers (CD19, CD20 may be negative)
  • CD10 +/- , CD45 usually negative
  • Surface Immunoglobulins usually negative
  • Aberrant co-expressions of myeloid markers (CD13, CD15, CD 33 is common and should not be confused with AML)
    *
47
Q

T-lyphoblastic lymphoma/leukemia

A
  • Children or adults
  • mediastinal mass presenting often
  • TdT+
  • Variable expression: CD1a, CD99, CD2, CD3, CD4, CD5, CD7, CD8
  • CD4+ CD8+, CD4- CD8-
  • CD7 and cCD3 are most often +
  • CD13 and CD33 often present (myeloid)
  • Rare CD117 (myeloid) CD79a (b-cell)
48
Q

T-ALL Genetics

A
  • 30% have translocations involving T-cell receptor on chromosomes 7 and 15
  • Partner genes of fusions: Myc, TAL, etc.)
  • Notch mutations t(7:9)
49
Q

Essential Thrombocythemia

A
  • MPN with proliferation of megakaryocytles and sustained thrombocytosis
  • > 450,000 platelets
  • hemorrhage or thrombosis
  • good prognosis
50
Q

Polycythemia Vera

A
  • Hgb > 16.5M 16.0W
  • Jak2 Mutation
  • Hypercellular bone marrow
  • 3 phases
    • prepolycythemic
    • overt polycythemic
    • spent phase
      • cytopenias, fibrosis
  • Lab tests:
    • Low EPO
    • Endogenous erythroid colony formation
51
Q

Primary Myelofibrosis

A
  • A BAD myeloproliferative disorder! (worse than ET, PV)
  • Megakaryocyte and granuloctyle proliferation leads to fibrosis
  • Mutations JAK2 V617F 50%, 25% CALR, 5% MPL
  • Peripheral Blood
    • Leukoerythroblastic reaction (leukoblasts and nucleated red cells)
    • Teardrop cells (dacrocytes)
  • Bone marrow usually fibrotic
    • atypical megas
    • osteosclerocis
  • There is a pro-fibrotic phase
52
Q

CML BCR-ABL+

A
  • Defined by BCR-ABL t(9:22) Philadelphia chromosome
  • FISH or RT-PCR must be performed if cytogenetics is negative
  • Presentation
    • median age 50 yo
    • splenomegaly (70%), anemia, fatigue, weight loss
    • LAP Score decreased (increased in leukomoid and other MPNs)
  • CML is Peripheral blood diagnosis
  • leukocytosis >50,000
  • myeloid cells at all stages of development
    • myeloid bulge
    • basophilia
  • Do a bone marrow to establish phase of disease
    • Chronic <10% blasts
    • Accelerated 10-19%
    • Blast phase > 20% blasts OR extrameduallary blasts
      • 70% myeloid
      • 30% lymphoid
    • Hypercellular, myeloid hyperplasia, left shift, small megas, clustered
  • Molecular:
    • constitutional tyrosine kinase activity
    • use inhibitors for tx:
      • imatinib, nolotinib, dasatinib
    • RT-PCR used for minimal residual disease
    • ABL1 Kinase mutations may decrase effectiveness of tx
    • Major Breakpoint 210 kD (minor 190 kD seen in ALL and CNL)
53
Q

Myelodysplastic Syndrome

A
  • Ineffective hematopoiesis, cytopenias, dysplasia in one or more myeloid lineages
  • <20% blasts
  • dysplasia >10% of cells
  • ringed sideroblasts (iron in mitochondria)
  • can go on to AML
  • increased infection and bleeding from low platelets
  • can have hypercellular marrow
  • CD 34 shows increased blasts (but less than 20%)
  • tend to see numeric gains and losses in chromosome segments (-5, -5q, -7, -8, etc..)
    • if more than 3 abnormalities, poor prognosis
    • isolated -5q, -Y, -20 good prognosis, others bad
  • translocations rare
  • chromosome 7 abnormalities poor prognosis
  • Flow not used for diagnosis
    *
54
Q

Juvenile Myelomonocytic leukemia

A
  • Childhood proliferation of myelomonocytic cells
  • RAS, MAPK, NRAS, KRAS, NF1 , CBL, PTPNF11
  • Monosomy 7 most common
  • increased in patients with neurofibromatosis (noonans syndrome)
  • poor prognosis
  • Dx:
    • Monocytes > 1000
    • <20% blasts
    • no BCR-ABL
    • splenomegaly
    • increase HgF
55
Q

t(11;14)(q13;q32)

A

Mantle Cell Lymphoma

56
Q

t(11;18)(q21;q21)

A

MALT

57
Q

t(14;20)

A

Multiple Myeloma

other mutations as well t(11;14) is good prognosis

14q32 (IGH) rearrangements seems in 50%\

addition of 1q deletion is poor prognosis

also trisomies of odd numbered chromosomes

58
Q

t(x;18)

A

Synovial sarcoma

59
Q

Anaplastic Large Cell Lymphoma, ALK+

A

t(2;5)

best prognosis in children

60
Q

t(3;14)

A

DLBCL

CP Board Review - Hematopathology (4 decks)

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