Genetics - Ch. 13 Flashcards

1
Q

3 main genetic mutation types that cause WBC cancer

A
  • Pro-growth arrested differentiation (MYC, RTK)
  • Txn factor increased self-renewal (MLL, PML-RARA)
  • Decreased apoptosis (BCL2)
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2
Q

NOTCH1

A

T-ALL or worse prognosis of CLL

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3
Q

t(12;21) RUNX1-ETV6

A

B-ALL

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4
Q

TdT

A

Pre-B and Pre-T lymphoblasts (ALL)

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5
Q

CD1-8

Exception?

A

T cells (CD5 is some B cells)

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6
Q

t(9;22) BCR-ABL

A

B-ALL, CML

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7
Q

Deletions of 13q, 11q, 17p

A

CLL/SLL

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8
Q

BTK activation via kinase cascade

A

CLL/SLL

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9
Q

CD19, CD20

A

B cells (Pre-B, mature B- NOT plasma cells)

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10
Q

t(14;18) BCL2 overexpression

A
  • Follicular lymphoma

- DLBCL (from FL)

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11
Q

MLL2 histone methyltransferase mutation

A

Follicular lymphoma

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12
Q

BCL6 dysregulation

A

Diffuse large B-cell lymphoma

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13
Q

KSHV/HHV-8 infection

A

Primary effusion lymphoma (DLBCL subtype)

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14
Q

Translocation w/ chromosome 8 – t(8;14) usually

A

Burkitt lymphoma (Chromosome 8 = MYC gene, Chromosome 14 = Ig locus)

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15
Q

High cyclin D1, CD19, CD20, IgM and IgD w/ light chains, CD5+, CD23-

A

Mantle cell lymphoma

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16
Q

Monoclonal IgM secretion, MYD88 mutation, CD20+

A

Lymphoplasmacytic lymphoma

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17
Q

MALT1 or BCL10 fusion genes

A

Extranodal marginal zone lymphoma - secondary mutations that render the disease antigen-independent

18
Q

t(11;18)

A

Extranodal marginal zone lymphoma

19
Q

BRAF activation mutations

A

Hairy cell leukemia

20
Q

t(11;14) cyclin-D1 - IgH fusion gene

A

Mantle cell lymphoma

21
Q

Diverse rearrangements involving IgH

A

Multiple myeloma

22
Q

Trisomy 12q

A

CLL/SLL

23
Q

HTLV-1

A

Adult T-cell leukemia/lymphoma

24
Q

ALK rearrangements

A

Anaplastic large-cell lymphoma

25
Q

STAT3 point mutations

A

Large granular lymphocytic leukemia

26
Q

CD45

A

Leukocyte common antigen (all leukocytes)

27
Q

CD30

A

Activated B cells, T cells, monocytes, RS cells

28
Q

CD34

A

Pluripotent hematopoietic stem cells and early progenitors

29
Q

CD23, CD5, CD19, CD20

A

CLL/SLL

30
Q

IgM, CD19, CD20, CD10, BCL6

A

Germinal center B cell

31
Q

How to tell Burkitt lymphoma from other germinal center B cell neoplasms?

A

Burkitt = NO BCL2 expression

32
Q

CD11c, CD25, CD103, annexin A1

A

Hairy cell leukemia

33
Q

PAX5, CD15, CD30

A

Nodular sclerosis HL

34
Q

CD20, BCL6, multilobed nucleus like popcorn kernel

A

L&H RS cell variant - Lymphocyte predominance HL

35
Q

JAK2 tyrosine kinase mutations

A

PCV, ET, or PM

36
Q

CD5+, B cells

A
  • Mantle cell lymphoma

- CLL/SLL

37
Q

Hyperdiploidy, hypodiploidy

A

B cell neoplasms

38
Q

Monosomy 5, 7

A

MDS, AML via MDS

39
Q

Deletions 5q, 7q, 20q

A

MDS, AML via MDS

40
Q

Trisomy 8

A

MDS