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Hematology and Oncology > WBC Genetics > Flashcards

Flashcards in WBC Genetics Deck (47):
1

t(12;21) involving RUNX1 and ETV6

B-ALL

2

NOTCH1 mutations

T-ALL and CLL(worse prognosis)

3

90% of ALLs have what numerical or structural change?

hyperploidy

4

TdT+

pre-lymphoblasts (B or T)

5

CD19

pre-B lymphoblast (B-ALL)

6

t(9;22) - what gene is changed and what two neoplasms result respective prognosis

Philadelphia chromosome = BCR-ABL tyrosine kinase activation (B-ALL=worse prognosis and CML=better prognosis)

7

Deletions of 13q14.3, 11q, 17p, and trisomy 12q

CLL/SLL

8

CD19, CD20, CD23, CD5

CLL/SLL

9

t(14;18) leading to overexpression of BCL2-IgH, which antagonizes apoptosis and promotes survival of this tumor cell (90%)

Follicular Lymphoma

10

MLL2 gene (90%)

Follicular Lymphoma

11

CD19, CD20, surface Ig, BCL6+, BCL2-

Follicular Lymphoma

12

BCL6+ is normal or pathologic in LN follicles?
BCL2+ is normal or pathologic in LN follicles?
Where do you assay these?

normal
pathologic

Assay them in the lymph nodes, not the peripheral blood.

13

BCL6+ (30%), t(14;18)=BCL2 (10%), MYC gene (5%)

Diffuse Large B-Cell Lymphoma

14

CD19, 20, 10, BCL6+, surface Ig

Diffuse Large B-Cell Lymphoma

15

t(8;14) = c-myc+ (all have this)

Burkitt Lymphoma

16

EBV

-Burkitt (25%)
-Immunodeficiency-associated large B-cell lymphoma
-Extranodal NK-T-cell Lymphoma
-Hodgkin Lymphoma

17

CD19, 20, 10, BCL6+, BCL2-

Burkitt

18

diverse rearrangements involving IgH, 13q deletions
Cyclin D1

Multiple myeloma

19

IgG-Kappa combination (IgG present in 55%)

Multiple myeloma

20

CD138 (aka syndecan-1)

Plasma cell tumors (Multiple myeloma)

21

MYD88 gene

Lymphoplasmacytic lymphoma

22

t(11;14) creating overexpresion of cyclinD1-IgH fusion gene

Mantle Cell Lymphoma

23

CD19, 20, Ig
CD5+
CD21-

Mantle Cell Lymphoma

24

t(11;18) t(1;14) t14;18) creating MALT-1IAP2, BCL10-IgH, and MALT1-IgHfusion genes

Marginal Zone Lymphoma

25

activating point mutations in serine/threonine kinase BRAF

Hairy Cell Leukemia

26

CD19, 20
**CD11c**, CD25, CD103, annexin A1

Hairy Cell Leukemia

27

Rearrangements of ALK gene on ch2p23 (children) and prognosis

Anaplastic Large Cell Lymphoma - good prognosis

28

Prognosis for ALK- tumors that are morphologically similar to Anaplastic Large Cell Lymphoma (adults)

poor prognosis

29

CD30+, ALK+

Anaplastic Large Cell Lymphoma

30

HTLV-1 provirus present in tumor cells (CD4+ T cells)

Adult T-Cell Leukemia/Lymphoma

31

CD4+ T cells
CCR4, CCR10 (skin)

Mycosis Fungoides/Sezary Syndrome

32

Point mutations at STAT3 gene

Large Granular Lymphocytic Leukemia

33

AML with t(8;21); CBFalpha/ETO fusion gene - what FAB classification and prognosis

M2 AML with myelocytic maturation
favorable prognosis

34

AML with t(15;17); CBFbeta/MYH11 fusion gene - what FAB classification and prognosis

M3 Acute Promyelocytic leukemia
intermediate prognosis

35

AML with inv(16); RARa/PML fusion gene - what FAB classification and prognosis

M4 AML with myelomonocyti cmaturation (Acute myelomonocytic leukemia)
favorable prognosis

36

AML with t(11q12); diverse MLL fusion genes - what FAB classification and prognosis

M4, M5 (poor prognosis)

37

CD33, CD34

immature myeloid cells; myeloblasts - AML

38

Myeloproliferative Disorder resulting from BCR-ABL fusion gene, causing ABL kinase activation
90% have t(9;22)

Chronic Myeloid Leukemia

39

Myeloproliferative Disorder resulting from JAK2 point mutation, causing JAK2 kinase activation

Polycythemia Vera

40

Two Myeloproliferative Disorders resulting from:
-JAK2 point mutation, causing JAK2 kinase activation
-MPL point mutation, causing MPL kinase activation

Essential Thrombocytosis

Primary Myelofibrosis

41

CCR6 and CCR7, allowing neoplastic cells to migrate to tissues that express chemokines CCL20 (skin and bone) and CCL19/21 (lymphoid organs)

Langerhans Cell Histiocytosis

42

ALK, Notch1 mutation = what type of cell

T cell markers

43

Chromosome 11 = what function, what cancers?

Cyclin D1. If overexpressed, then increase G1/S transition.
-Mantle Cell (11;14) , Marginal cell (11;18)

44

Chromosome 8 = what function, what cancers?

C-myc. Excess cell growth
-Burkitt Lymphoma

45

Chromosome 18 = what function, what cancers?

BCL@. Overexpression = decreased apoptosis.
- Marginal Cell Lymphoma (11;18) and Follicular Lymphome (14; 18)

46

Chromosome 14 = what cancer?

Hairy cell

47

Ch12;21

ETV6, RUNX = B-ALL