AML

Question 1

4 most important cytogenetic alterations in patients with AML

Answer 1

t(8;21)
t(15;17)
inv(16)
11q23(MLL)

Question 2

Conditions predisposing to AML?

Answer 2

• inherited conditions: Down syndrome, Fanconi anaemia, severe congenital neutropenia, DBA, DC, NF1, Bloom syndrome, SDS, Li fraumeni syndrome, ataxia telangiectasia, twinning.
• acquired conditions: aplastic anaemia, MDS, MPS, NPH
• Environmental exposures: ionizing radiation, alkylating and topoisomerase II inhibitors chemo

Question 3

what is RUNX1-RUNXITI

Answer 3

t(8;21)

Question 4

characteristics of t(8;21)

Answer 4

FAB M2
auer rods
chloromas
core binding factor - good prognosis

Question 5

characteristics of t(15;17)

Answer 5

FAB M3
granules/auer rods
DIC, good prognosis with ATRA/arsenic

Question 6

characteristics of inv(16)/t(16;16)

Answer 6

FAB M4Eo
eosinophilia with basophilic granules
chloromas
good prognosis

Question 7

what is the translocation assoc with CBFB-MYH11

Answer 7

inv(16)/t(16;16)

Question 8

characteristics of 11q23 abnormalities

Answer 8

FAB M4 or M5
usually an infant with extramedullary disease (skin, gums, CNS etc), presents usually with high WBC, also assoc with treatment related AML

Question 9

most common translocation causing APL

Answer 9

t(15;17)

Question 10

familial platelet disorders with predispositions to AML

Answer 10

RUNX1
ankyrin
ETV6

Question 11

other germline mutations predisposing to AML

Answer 11

CEBPA -/-

GATA2

Question 12

therapies associated with treatment-related AML

Answer 12

radiation
alkylating agents
topoisomerase II inhibits

Question 13

time of onset of topoisomerase II related AML and cytogenetic findings

Answer 13

short latency (1-2 yrs after therapy)
often: 11q23 (MLL)

Question 14

time of onset of alkylator / radiation related AML and cyto findings

Answer 14

longer latency (5-7 yrs), usually has preceding MDS, cyto: -7, -5, complex cytogenetics