White Cell Disorders Flashcards by Ben Saylor

What is the cell finding in Chediak Higashi?

Defect in?

Associated with?

What makes this disease worse?

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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MYH9 diseases has what findings?

Inheritance pattern?

Finding in WBCs?

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

Auto dom

Dohle bodies: small purple cytoplasmic inclusions; Normal neutorphil function

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What is Alder Reilly anomaly?

What do you seein WBCs/special stain?

Neutrophil function?

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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What is Pelger-Huet anomaly/micro finding?

Clinical significance?

Hypolobated neutrophil; Auto dom disorder lamin B receptor

No significance

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

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Gaucher disease machophages look like?

Issues with?

Tissue paper (folded blue cytoplasm)

Glucorerebroside accumulation and glucocerbrosidase deficency

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Niemann-Pick macrophage morphology?

Issue with?

Foamy, vacuolated cytoplasm

Sphringomyelin accumulation/ sphingomyelinase deficiency

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Atypical lymphocytes associated with?

Cell type?

Morphology?

LGL’s are what kind of cell?

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

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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Hematogones look like?

Flow markers?

How to seperate from B ALL?

Blasts
Cd20, CD10, CD34, TdT+

B ALL has CD10-

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Myeloblasts have?

Monoblasts have?

Promyelocyte features?

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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ALL has what PAS staining pattern?

AML staining with Sudan black?

AML nonspecific esterates/ if 2 colors?

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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Acute myelomonocytic leukemia definition?
Flow?

What classic clinical finding?

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

Gingival hyperplasia

CD4 +, CD 16+

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Acute monoblastic and monocytic leukemia definition?

>80% monocytic cells

M5a: 80% >Monocytic cells and monoblasts

M6b: <80% monocytic cells are monoblasts

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Pure erythroid leukemia definition, cytoplasmic finding?

Postive stains?

Erytholeukemia requirements?

>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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Acute megakaryoblastic leukemia definition?

Genes excluded?

Markers?

>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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Good prognosis AML recurrent genetics (3 of them)?

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

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APL has what transolation/genes, cyto findings?

Reason we need to dx quickly?

Phenotype?

Tx?

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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APL ATRA resistant translocations?

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

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

What differentiation?

Risk?
Population?

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MLLT3-KMT2A

MONOCYTIC diff

Intermediate risk

More common in kids

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

Common finding?

Prognosis?

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DEK-NUP214

INCREASED BASOPHILS
POOR

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

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GATA2-MECOM (EVI1)

Dysplastic hypolobated megas

Poor

AML t(1;22) genes?

Cell type?

Population of patients?

DDx?

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RBM15-MLK1

Megakaryoblasts

Kids under 3

Myeloid leukemia of Downs or Transient abnormal myeloporesis

Prognosis of therapy related AML from akylating agents?

Of topoisomerase II inhibitors?

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Poor!; MDS associated; 3-5 years after

Better; not associated with MDS; Monocytic; better prognosis

AML normal karyotype:

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

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

FLT3 ITD: Poor and resistance to chemo

FLT3-TKD: Pronosis controversal

Who gets BLL?

Where does it present vs TLL?

Prognosis vs TLL?

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

BM and Peripheral blood; TLL as mediastinal mass in kids

Better than TLL

B ALL flow markers? What about CD20? What about Pax5?

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**

B-LBL good prognosis genes, age? B-LBL poor prognosis, genes and age?

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

t(4;11) t(12;21) t(9;22) In ALL what age group (infant, kids, adult) are the translocations in?

t(4;11) infant t(12;21) kid t(9;22) adult

TLL occurs where? Immunophenotype?

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**

What chr has Alpha and delta TCR? B TCR? Gamma? What genetic finding is rare but commonly seen?

A/Delta: 14q11.2 Beta: 7q35 Gamma 7p14 **t(7;9) NOTC1 (\<1% however)**

Myeloid neoplasms with eosinophils have what mutations? Mastocytosis mutation?

PDGFRA, PDGFRB, FGFR1 Masto: KIT D816V

JAK2 most common mutation? Associated with?

V617F; 5% exon 12 adn 13 issues PV 95%, ET 50%, PMF 50%

Essential thrombocythemia, definition? Survival? Mutations? BM findings?

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**

PCV criteria? 3 phases?

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)**

Primary myelofibrosis is important becasue? Peripheral blood has? Mutations? BM?

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**

ET vs prefibrotic PMF?

PMF has more panmyelosis, more dysplastic megs, AND leukoeyrthroblastosis

CML has what gene? Clinical presentaiton? LAP score in CML? PB shows? Do you need BM?

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)**

CML chronic phase, accelerated, blast? Blast has what additional cytogenetic changes? BM findings?

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)**

ABL1 kinase mutations cause? Is BCR-ABL1 specific for CML? Major Minor u?

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

CMML lacks? What is atypical CML; gene associated?

BCR-ABL1 but has peripheral blood monocytosis Looks like CML but is BCL-ABL1 negative; **Dysplasia, SEPBP1**

MDS needs dysplasia in what %? BM; hyper/hypocellular in MDS? Good MDS genetics? Intermediate? Poor?

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

MDS isolated deletion of 5q progonsis? PB? BM finding? Genes that are lost? Tx?

Good! PB: **Macrocytosis and thrombocytosis** BM: **Small hypolobated mega** RPS14, SPARC, TN1P1 Lenalidomide

MDS in kids: Findings vs adults? What cells tend to be dysplastic? Hyper or hypocellular?

**More neutropenia, thrombocytopenia than anemia** More neutrophil and megakaryocyte dysplasia **Hypocellular**

Myelodysplastic/Myeloproliferative neoplasms: CMML definition? Mutations?

Blood monocytosis \>1e9 /L **CD123+ (plasmacytoid dendridic cell);** CD13, CD14, CD68, CD64 and CD33 + ## Footnote **ASXL1, TET2, SRSF2, KRAS, NRAS, SETBP1**

Juvenile myelomonocytic leukemia? Patient population? Genes? Most common cytogenetic? Hb lab finding? Associated with? Drug? Prognosis?

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

White Cell Disorders Flashcards

(44 cards)