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Hematology and Oncology > WBC Genetics > Flashcards

WBC Genetics Flashcards

1
Q

t(12;21) involving RUNX1 and ETV6

A

B-ALL

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2
Q

NOTCH1 mutations

A

T-ALL and CLL(worse prognosis)

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3
Q

90% of ALLs have what numerical or structural change?

A

hyperploidy

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4
Q

TdT+

A

pre-lymphoblasts (B or T)

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5
Q

CD19

A

pre-B lymphoblast (B-ALL)

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6
Q

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

A

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

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7
Q

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

A

CLL/SLL

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8
Q

CD19, CD20, CD23, CD5

A

CLL/SLL

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9
Q

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

A

Follicular Lymphoma

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10
Q

MLL2 gene (90%)

A

Follicular Lymphoma

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11
Q

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

A

Follicular Lymphoma

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12
Q

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

A

normal
pathologic

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

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13
Q

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

A

Diffuse Large B-Cell Lymphoma

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14
Q

CD19, 20, 10, BCL6+, surface Ig

A

Diffuse Large B-Cell Lymphoma

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15
Q

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

A

Burkitt Lymphoma

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16
Q

EBV

A
  • Burkitt (25%)
  • Immunodeficiency-associated large B-cell lymphoma
  • Extranodal NK-T-cell Lymphoma
  • Hodgkin Lymphoma
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17
Q

CD19, 20, 10, BCL6+, BCL2-

A

Burkitt

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18
Q

diverse rearrangements involving IgH, 13q deletions

Cyclin D1

A

Multiple myeloma

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19
Q

IgG-Kappa combination (IgG present in 55%)

A

Multiple myeloma

20
Q

CD138 (aka syndecan-1)

A

Plasma cell tumors (Multiple myeloma)

21
Q

MYD88 gene

A

Lymphoplasmacytic lymphoma

22
Q

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

A

Mantle Cell Lymphoma

23
Q

CD19, 20, Ig
CD5+
CD21-

A

Mantle Cell Lymphoma

24
Q

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

A

Marginal Zone Lymphoma

25
Q

activating point mutations in serine/threonine kinase BRAF

A

Hairy Cell Leukemia

26
Q

CD19, 20

CD11c, CD25, CD103, annexin A1

A

Hairy Cell Leukemia

27
Q

Rearrangements of ALK gene on ch2p23 (children) and prognosis

A

Anaplastic Large Cell Lymphoma - good prognosis

28
Q

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

A

poor prognosis

29
Q

CD30+, ALK+

A

Anaplastic Large Cell Lymphoma

30
Q

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

A

Adult T-Cell Leukemia/Lymphoma

31
Q

CD4+ T cells

CCR4, CCR10 (skin)

A

Mycosis Fungoides/Sezary Syndrome

32
Q

Point mutations at STAT3 gene

A

Large Granular Lymphocytic Leukemia

33
Q

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

A

M2 AML with myelocytic maturation

favorable prognosis

34
Q

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

A

M3 Acute Promyelocytic leukemia

intermediate prognosis

35
Q

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

A

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

36
Q

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

A

M4, M5 (poor prognosis)

37
Q

CD33, CD34

A

immature myeloid cells; myeloblasts - AML

38
Q

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

A

Chronic Myeloid Leukemia

39
Q

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

A

Polycythemia Vera

40
Q

Two Myeloproliferative Disorders resulting from:

  • JAK2 point mutation, causing JAK2 kinase activation
  • MPL point mutation, causing MPL kinase activation
A

Essential Thrombocytosis

Primary Myelofibrosis

41
Q

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

A

Langerhans Cell Histiocytosis

42
Q

ALK, Notch1 mutation = what type of cell

A

T cell markers

43
Q

Chromosome 11 = what function, what cancers?

A

Cyclin D1. If overexpressed, then increase G1/S transition.

-Mantle Cell (11;14) , Marginal cell (11;18)

44
Q

Chromosome 8 = what function, what cancers?

A

C-myc. Excess cell growth

-Burkitt Lymphoma

45
Q

Chromosome 18 = what function, what cancers?

A

BCL@. Overexpression = decreased apoptosis.

- Marginal Cell Lymphoma (11;18) and Follicular Lymphome (14; 18)

46
Q

Chromosome 14 = what cancer?

A

Hairy cell

47
Q

Ch12;21

A

ETV6, RUNX = B-ALL

Hematology and Oncology (18 decks)

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