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Heme/Lymph > Mutations > Flashcards

Flashcards in Mutations Deck (25):
1

MDS

chromosomal abnormalities

2

recurrent cytogenic abnormalities w/diseases & prognoses

t(8,21) AML1/ETO favorable
inv(16) CBFBeta/MYH11 favorable
t(15,17) PML/RARalpha favorable
11q23 rearrangements unfavorable

3

Langerhans cell histiocytosis

CD1a. langerin
BRAF mutations

4

CML

t(9,22), BCR-ABL, constitutively active kinase

5

PV

JAK2, tyrosine kinase

6

PMF

JAK2, tyrosine kinase

7

ET

JAK2, tyrosine kinase

8

AML w/cytogenic abnormalities

t(8,21)
inv16
t(15,17)
11q23 (MLL)

9

What gene does APL affect? Result?

t(15,17)
generates PML-RARalpha
maturation arrest at promyelocyte stage

10

AML w/myelodysplasia-related changes

monosomy 7/del(7q)
monosomy 5/del(5q)
complex karyotypes

11

Topoisomerase II inhibitor-related AML

11q23 (MLL)

12

Alkylating agent related AML/MDS

aberrancies of chromosomes 5 & 7

13

Langerhans cell tumors

BRAF serine/threonine kinase

14

B-ALL (2)

t(12,21) most common in kids
t(9,22) poor prognosis

15

T-ALL

NOTCH1

16

CLL/SLL

trisomy 12
deletions of 11q, 13q & 17p

17

CLL/SLL with worse prognosis?

11q &17p deletions

18

Burkitt lymphoma

t(8,14)
c-myc

19

Diffuse large B-cell lymphoma

BCL6 or
BCL2 or
c-myc

20

Extranodal marginal zone lymphoma

t(11,18) MALT 1
t(1,14) IAP2
t(14,18) BCL10-IgH

21

Follicular Lymphoma

t(14,18) BCL2-IgH

22

Mantle cell lymphoma

t(11,14) CyclinD1-IgH fusion

23

Peripheral T cell lymphoma, unspecified

no specific abnormalities

24

Anaplastic large-cell lymphoma

ALK rearrangements

25

Extranodal NK/Tcell lymphoma

EBV associated
no specific abnormality