Aml

Question 1

Genetic abn assoc w t-AML

Answer 1

Monosomy 5 &7- assoc w alkylator use, unbalanced chromosome ie monosomy . Occur 5-10 yrs post therapy usually w mds phase first
Topoisomerase- <5 yrs, balanced translocations, present as AML w no mds phase

Question 2

Which genes responsible for DNA methylation

Answer 2

DNMT3A, TET2, IDH 1/2

Question 3

Chromatin modification gènes

Answer 3

ASXL 1 EZH 2 IDH 1/2

Question 4

M RNA splicing genes

Answer 4

U2AF1, SF3B1, SRSF2, ERSF2, ZRSR2

Question 5

DNA repair genes

Answer 5

TP53

Question 6

What genes can you do fish for in aml

Answer 6

Runx1-runx1t fusion, cbf-myh11, kmt2a(mll) and MECOM (EVi 1) gene fusions or loss of chromosome 5q, 7q, or 17p

Question 7

What defines recurrent genetic abnormality in AML

Answer 7

balanced chromosomal rearrangements and their resulting chimeric fusion genes,

Question 8

Describe the flt3-itd mutation

Answer 8

in-frame duplications within the juxtamembrane region

Question 9

Describe flt3a_tkd mutation

Answer 9

point mutations in the tyrosine kinase domain comltuuse 7%aml

Question 10

Most common cg abn in mpal

Answer 10

9:22 ph

Then mll re rearrangement

Question 11

CG of t-AML following topoisomerase II inhibitor use

Answer 11

Mll gene re rearrangement at 11q23, and t(9;11)

Question 12

T AML post alkylating agent

Answer 12

Long et latency periods

usually preceded by MDS, and is characterized by complex or monosomal karyotype (−5 or −7).

Question 13

Two aberrant markers commonly seen in AML

Answer 13

Cd7 t cell

Cdcc15 marker of maturity