Oncology - break-points, probes, therapies

Question 1

inv(3) or t(3;3)

Answer 1

AML

inv(3)(q21.3q26.2)

t(3;3)(q21.3;q26)

GATA2;MECOM

ELN adverse

Question 2

t(8;21)

Answer 2

AML

t(8;21)(q22;q22.1)

RUNX1-RUNX1T1

ELN favourable

Question 3

inv(16)

Answer 3

AML

inv(16)(p13.1q22)

CBFB-MYH11

ELN favourable

Question 4

t(9;11)

Answer 4

AML

t(9;11)(p21.3;q23.3)

MLLT3-KMT2A

ELN Intermediate

Question 5

t(6;9)

Answer 5

AML

t(6;9)(p23;q34.1)

DEK-NUP214

ELN Adverse

Question 6

t(15;17)

Answer 6

APL

t(15;17)(q24;q21)

PML-RARA

Favourable if treated with ATRA

Question 7

NPM1 mutation

Answer 7

Favourable

Question 8

FLT3-ITD

Answer 8

Poor

Question 9

NPM1 mutation with no/low FLT-ITD

Answer 9

Favourable

Question 10

NPM1 mutation and FLT3-ITD high

Answer 10

Intermediate

FLT3 inhibitors = midostaurin

Question 11

Wild type NPM1 with no/low FLT3-ITD

Answer 11

Intermediate

Question 12

Wild type NPML with high FLT3-ITD

Answer 12

Adverse

FLT3 inhibitors = midostaurin

Question 13

-5 or del(5q), -7, -17/abn(17p)

Answer 13

Adverse

Question 14

Mutated RUNX1 or ASXL1 or TP53

Answer 14

Adverse

Question 15

Novel therapies for AML

Answer 15

FLT3 inhibitors

Epigenetic therapies that target the metabolic enzymes IDH1 and IDH2 that are frequently mutated in AML

Targeted immunotherapy CD33, CD123,
CLEC12A (AML antigenic targets)

Engineered chimeric antigen receptor T (CAR-T) cells target CD33 and CD123 are in early trials