Translocations

Question 1

KMT2A

Answer 1

MLL
Infantile ALL, poor prognosis

Question 2

ETV6/RUNX1

Answer 2

t(12:21)(p13;q22)

Question 3

ETV6/RUNX1

Answer 3

TEL:AML excellent prognosis B-ALL

ETV6 may be assoc with preceding mild thrombocytopenia

Question 4

TCF3:PBX1

Answer 4

E2A:PBX1 neutral outcome B-ALL

Question 5

TCF3:PBX1

Answer 5

t(1:19)(q23;p13)

5% B-ALL

Question 6

KMT2A

Answer 6

t(v;11)(v;q23)
t(11;v)(q23;v)

Question 7

BCR:ABL

Answer 7

t(9:22)(q34;q11)

Question 8

P2RY8:CRLF2

Answer 8

Ph-like ALL

Question 9

P2RY8:CRLF2

Answer 9

Focal del Xp22/Yp11
T(x;14)

ALL, poorer prognosis in HR, no in standard risk

Question 10

IgH:CRLF2

Answer 10

Enriched in adolescence B-ALL
Focal del Xp22/Yp11
T(x:14)

Question 11

Myc fused to IgH, IgI, or Igk

Answer 11

t(8;14)(q24;q32)
t(2:8)(p11:q24)
t(8:22)(q24;q11)

Burkitt

Question 12

AML1-ETO
RUNX1-RUNX1T1

AML, M2, auer rods, good prognosis

Answer 12

t(8;21)

Question 13

CBFB-MYH11
Good prognosis AML, eos with baso granules

Answer 13

Inv(16)
t(16;16)

Question 14

PML-RARA

M3, APML

Answer 14

t(15:17)

Question 15

MLL
AML infantile, M4/M5

Answer 15

Abnormal 11q23

Question 16

P210 BCR-ABL fusion

Answer 16

CML

(P190 = ALL, “A comes 1st)

Question 17

Monosomy 7

Answer 17

MDS, most common

Question 18

JMML

Answer 18

RAS gene family

Question 19

Hypodiploid

Answer 19

</= 45 chromosomes

“Low” modal number 32-29 has Higher assoc with TP53 mutation

Question 20

Haploidy

Answer 20

Modal number <32

Question 21

Hyperdiploidy

Answer 21

Gain of 4 and 10 (double trisomy)

Question 22

t(Y;14)(p11;q32)

Answer 22

IGH-CRLF2

Ph-like ALL, more common Hispanic adolescents

Question 23

EWS-FLI1

Answer 23

Ewing sarcoma

Question 24

Translocation more likely to be seen in peds T cell ALL

Answer 24

t(11:14)(p13;q11.2)

Question 25

t(9:11)(q34;q23)

Answer 25

MLL-AF9 fusion
AML

Question 26

Hyperdiploid

Answer 26

High hyperdiploid > 50-67 chromosomes

Question 27

Infantile fibrosarcoma

Answer 27

t(12;15)(p13;q25)

Causes a fusion of ETV6 with NTRK3 growth factor like receptor tyrosine kinase

Also found in congenital mesoblastic nephroma and secretory breast carcinoma

Question 28

t(11;22)(q24;q12)

Answer 28

PNET
Ewing Sarcoma

Question 29

t(2;13)(35;q14)

Answer 29

Alveolar rhabdomyosarcoma

Question 30

t(x;18)(p11;q11)

Answer 30

Synovial sarcoma

Question 31

Ring chromosome
In solid tumor

Answer 31

Low-grade mesenchymal tumor (parosteal osteosarcoma)

Question 32

N-MYC amplification

Answer 32

Neuroblastoma
(Does not stain vimentin)

Question 33

Therapy related AML

Answer 33

Etoposide or Doxo t(9:11)
Short latency of 6-18 months

Cytoxan or ifos monosomy7 or 5q-
Long latency of 3-5yrs

Question 34

Sarcoma
EWSR1-WT1

Answer 34

Desmoplastic round cell tumor
(11;22)(p13;q12)

Question 35

t(x;17) that fuses ASPSCR1 gene with TFE3 soft tissue mass in extremities

Answer 35

Alveolar rhabdomyosarcoma

Question 36

CIC-DUX4

Answer 36

Non-Ewing round cell sarcoma
t(14;19)
t(10;19)

Weak CD99

Question 37

Malignant peripheral nerve sheath tumor

Answer 37

17q11.2, loss of 10p

NF1 fusion gene