WBC Genetics

Question 1

t(12;21) involving RUNX1 and ETV6

Answer 1

B-ALL

Question 2

NOTCH1 mutations

Answer 2

T-ALL and CLL(worse prognosis)

Question 3

90% of ALLs have what numerical or structural change?

Answer 3

hyperploidy

Question 4

TdT+

Answer 4

pre-lymphoblasts (B or T)

Question 5

CD19

Answer 5

pre-B lymphoblast (B-ALL)

Question 6

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

Answer 6

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

Question 7

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

Answer 7

CLL/SLL

Question 8

CD19, CD20, CD23, CD5

Answer 8

CLL/SLL

Question 9

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

Answer 9

Follicular Lymphoma

Question 10

MLL2 gene (90%)

Answer 10

Follicular Lymphoma

Question 11

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

Answer 11

Follicular Lymphoma

Question 12

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

Answer 12

normal
pathologic

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

Question 13

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

Answer 13

Diffuse Large B-Cell Lymphoma

Question 14

CD19, 20, 10, BCL6+, surface Ig

Answer 14

Diffuse Large B-Cell Lymphoma

Question 15

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

Answer 15

Burkitt Lymphoma

Question 16

EBV

Answer 16

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

Question 17

CD19, 20, 10, BCL6+, BCL2-

Answer 17

Burkitt

Question 18

diverse rearrangements involving IgH, 13q deletions

Cyclin D1

Answer 18

Multiple myeloma

Question 19

IgG-Kappa combination (IgG present in 55%)

Answer 19

Multiple myeloma

Question 20

CD138 (aka syndecan-1)

Answer 20

Plasma cell tumors (Multiple myeloma)

Question 21

MYD88 gene

Answer 21

Lymphoplasmacytic lymphoma

Question 22

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

Answer 22

Mantle Cell Lymphoma

Question 23

CD19, 20, Ig
CD5+
CD21-

Answer 23

Mantle Cell Lymphoma

Question 24

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

Answer 24

Marginal Zone Lymphoma

Question 25

activating point mutations in serine/threonine kinase BRAF

Answer 25

Hairy Cell Leukemia

Question 26

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

Answer 26

Hairy Cell Leukemia

Question 27

Rearrangements of ALK gene on ch2p23 (children) and prognosis

Answer 27

Anaplastic Large Cell Lymphoma - good prognosis

Question 28

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

Answer 28

poor prognosis

Question 29

CD30+, ALK+

Answer 29

Anaplastic Large Cell Lymphoma

Question 30

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

Answer 30

Adult T-Cell Leukemia/Lymphoma

Question 31

CD4+ T cells | CCR4, CCR10 (skin)

Answer 31

Mycosis Fungoides/Sezary Syndrome

Question 32

Point mutations at STAT3 gene

Answer 32

Large Granular Lymphocytic Leukemia

Question 33

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

Answer 33

M2 AML with myelocytic maturation | favorable prognosis

Question 34

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

Answer 34

M3 Acute Promyelocytic leukemia | intermediate prognosis

Question 35

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

Answer 35

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

Question 36

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

Answer 36

M4, M5 (poor prognosis)

Question 37

CD33, CD34

Answer 37

immature myeloid cells; myeloblasts - AML

Question 38

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

Answer 38

Chronic Myeloid Leukemia

Question 39

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

Answer 39

Polycythemia Vera

Question 40

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

Answer 40

Essential Thrombocytosis Primary Myelofibrosis

Question 41

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

Answer 41

Langerhans Cell Histiocytosis

Question 42

ALK, Notch1 mutation = what type of cell

Answer 42

T cell markers

Question 43

Chromosome 11 = what function, what cancers?

Answer 43

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

Question 44

Chromosome 8 = what function, what cancers?

Answer 44

C-myc. Excess cell growth | -Burkitt Lymphoma

Question 45

Chromosome 18 = what function, what cancers?

Answer 45

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

Question 46

Chromosome 14 = what cancer?

Answer 46

Hairy cell

Question 47

Ch12;21

Answer 47

ETV6, RUNX = B-ALL