Genes Heme

Question 0

AML unfavorable karyotype and mutations

Answer 0

inv(3), -5/del(5q-), -7
LOW NUMBERS AND MINUS SIGNS ARE BAD IN AML

ALSO FLT3 (tyrosine R kinase)

Question 1

AML favorable karyotype and mutns

Answer 1

t(8;21), t(15;17), inv(16)

NMP1 is good (no problem man!)

Question 2

aPML promyelocytic AML M3

Answer 2

t(15;17)

retinoic acid gene

Question 3

MDS UNFAVORABLE

Answer 3

chr 7

Question 4

MDS FAVORABLE

Answer 4

5q- and 20q-

Question 5

CMML:what genes suggest favorable response to imatinib (gleevec)

Answer 5

t(15;12) (q33;p13)

PDGFRB platelet derived growth factor b

Question 6

Jak 2 mutn

Answer 6

PV, ET, AMM

Question 7

gene CML

Answer 7

t(9;22), BCR-abl protein, a tyrosine kinase inhibitor

Question 8

incr LAP score (leukocyte alkaline phosphatase)

Answer 8

PV

Question 9

decr. LAP score (leukocyte alkaline phosphatase)

Answer 9

CML

Question 10

follicular lymphoma

Answer 10

t(14;18)

Question 11

CLL FAVORABLE

Answer 11

13q -
low ZAP 70
low CD38
mutn heavy chain Ig

Question 12

CLL POOR PROGNOSIS

Answer 12

17p -

11q-

Question 13

burkitt

Answer 13

t(8;14)

leads to incr C-myc protein

Question 14

mantle

Answer 14

overexpression BCL1 product cyclin d 1

Question 15

BRCA1 is on what chromosome?

Answer 15

17q21

Question 16

BRCA2 is on what chromosome?

Answer 16

13 q 12-13

Question 17

BRCA1 have increased risk of

Answer 17

BCA 50 to 85% lifetime risk
OVARIAN 40% lifetime
colorectal
prostate

Question 18

BRCA2 have risk of

Answer 18

BCA 50 to 85% lifetime risk
ovarian 10 to 20% lifetime
melanoma, pancreatic, prostate

Question 19

Li fraumeni syndrome

Answer 19

TP53

Question 20

cowden syndrome

Answer 20

PTEN

in tuberous sclerosis family