Mutations/Translations

Question 1

t(9;22)

Answer 1

CML, B-ALL (worst prognosis)

Question 2

JAK2 constituitive activation

Answer 2

Polycythemia Vera
Primary Myelofibrosis (50% cases)
Essential Thrombocytopenia (50% cases)

Question 3

t(8;21)

Answer 3

–> rearranges AML1/ETO genes

AML w/ favorable prognosis

Question 4

inv(16)

Answer 4

AML w/ favorable prognosis

Question 5

t(15; 17)

Answer 5

–> generates PML-RARalpha (retinoic acid receptor alpha) fusion gene = prod maturation arrest at promyelocyte stage – Acute Promyelocytic Leukemia

AML subclassification of APL w/ favorable prognosis

Question 6

11q23(MLL)

Answer 6

AML w/ unfavorable prognosis

Question 7

BRAF mutation

Answer 7

Langerhans Cell Histiocytosis

Question 8

t(12;21)

Answer 8

B-ALL (most common translocation in kids for dz)

Question 9

Good prognostic indicators for B-ALL

Answer 9

2-10 yo
hyperdiploidy
t(12;21)

Question 10

Bad prognostic indicators for B-ALL

Answer 10

< 2 yo
> 10 yo
t(9;22)
MLL gene
hypodiploidy
elevated wbc
CSF involvement
marrow involvement at day 15 tx

Question 11

Good prognostic indicators for CLL/SLL

Answer 11

del 13q
mutated IgH
low Rai stage

Question 12

Bad prognostic indicators for CLL/SLL

Answer 12

del 11q or 17q (p53)
unmuted IgH
high Rai stage
CD38/ZAP-70 expression

Question 13

t(14;18)

Answer 13

follicular lymphoma

Bcl2-IgH

Question 14

t(11;14)

Answer 14

mantle cell lymphoma

cyclin D1 - IgH

Question 15

translocations of Burkitt lymphoma

Answer 15

t(8;14) –> cMyc IgH
t(2;8)
t(8;22)

Question 16

t(11;18)

Answer 16

MALT1-AP2

Question 17

t(2;5)

Answer 17

ALK rearrangement (tyr kinase receptor)