Genetics - Ch. 13

Question 1

3 main genetic mutation types that cause WBC cancer

Answer 1

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

Question 2

NOTCH1

Answer 2

T-ALL or worse prognosis of CLL

Question 3

t(12;21) RUNX1-ETV6

Answer 3

B-ALL

Question 4

TdT

Answer 4

Pre-B and Pre-T lymphoblasts (ALL)

Question 5

CD1-8

Exception?

Answer 5

T cells (CD5 is some B cells)

Question 6

t(9;22) BCR-ABL

Answer 6

B-ALL, CML

Question 7

Deletions of 13q, 11q, 17p

Answer 7

CLL/SLL

Question 8

BTK activation via kinase cascade

Answer 8

CLL/SLL

Question 9

CD19, CD20

Answer 9

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

Question 10

t(14;18) BCL2 overexpression

Answer 10

• Follicular lymphoma

- DLBCL (from FL)

Question 11

MLL2 histone methyltransferase mutation

Answer 11

Follicular lymphoma

Question 12

BCL6 dysregulation

Answer 12

Diffuse large B-cell lymphoma

Question 13

KSHV/HHV-8 infection

Answer 13

Primary effusion lymphoma (DLBCL subtype)

Question 14

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

Answer 14

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

Question 15

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

Answer 15

Mantle cell lymphoma

Question 16

Monoclonal IgM secretion, MYD88 mutation, CD20+

Answer 16

Lymphoplasmacytic lymphoma

Question 17

MALT1 or BCL10 fusion genes

Answer 17

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

Question 18

t(11;18)

Answer 18

Extranodal marginal zone lymphoma

Question 19

BRAF activation mutations

Answer 19

Hairy cell leukemia

Question 20

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

Answer 20

Mantle cell lymphoma

Question 21

Diverse rearrangements involving IgH

Answer 21

Multiple myeloma

Question 22

Trisomy 12q

Answer 22

CLL/SLL

Question 23

HTLV-1

Answer 23

Adult T-cell leukemia/lymphoma

Question 24

ALK rearrangements

Answer 24

Anaplastic large-cell lymphoma

Question 25

STAT3 point mutations

Answer 25

Large granular lymphocytic leukemia

Question 26

CD45

Answer 26

Leukocyte common antigen (all leukocytes)

Question 27

CD30

Answer 27

Activated B cells, T cells, monocytes, RS cells

Question 28

CD34

Answer 28

Pluripotent hematopoietic stem cells and early progenitors

Question 29

CD23, CD5, CD19, CD20

Answer 29

CLL/SLL

Question 30

IgM, CD19, CD20, CD10, BCL6

Answer 30

Germinal center B cell

Question 31

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

Answer 31

Burkitt = NO BCL2 expression

Question 32

CD11c, CD25, CD103, annexin A1

Answer 32

Hairy cell leukemia

Question 33

PAX5, CD15, CD30

Answer 33

Nodular sclerosis HL

Question 34

CD20, BCL6, multilobed nucleus like popcorn kernel

Answer 34

L&H RS cell variant - Lymphocyte predominance HL

Question 35

JAK2 tyrosine kinase mutations

Answer 35

PCV, ET, or PM

Question 36

CD5+, B cells

Answer 36

- Mantle cell lymphoma | - CLL/SLL

Question 37

Hyperdiploidy, hypodiploidy

Answer 37

B cell neoplasms

Question 38

Monosomy 5, 7

Answer 38

MDS, AML via MDS

Question 39

Deletions 5q, 7q, 20q

Answer 39

MDS, AML via MDS

Question 40

Trisomy 8

Answer 40

MDS