Cytogenetics 2

Question 1

6 genes that code for tyrosine kinases that are frequently seen in rearrangements in hematolymphoid neoplasms

Answer 1

ABL1 (9q34)
ABL2 (1q25)
FLT3(13q12.2)
SYK (9q22)
JAK2 (9q24)
NTRKs (15q25.3)

Question 2

7 transcription factors commonly mutated in MDS/MPN

Answer 2

CEBPA (19q)
NPM1 (5q)
WT1 (11p)
TET2 (4q)
RUNX1 (21q)
ASXL1 (20q)

Question 3

2 most common mutations in JMML

Answer 3

20q

CBL (11q)

Question 4

what will worsen the favorable prognosis of AML with t(8;21)?

Answer 4

KIT mutation

Question 5

what type of AML has highest risk of CNS involvemnt

Answer 5

inv(16)

Question 6

cytogenetic “clue” to presence of inv(6)

Answer 6

+22

Question 7

variant PML translocation what does not respond to ATRA

Answer 7

t(11;17)

ZBTB16(PLZF)-RARA

Question 8

variant PML translocation taht does respond to ATRA

Answer 8

t(5;17)

NPM1-RARA

Question 9

details abot AML with t(9;11)

Answer 9

monocytic/myelomonocytic phenotype
CD34 negative
frequent PAS mutation

Question 10

AML with basophilia

Answer 10

t(6;9)

DEK-NUP214

Question 11

with normal karyotype, these abnormalities alone show good prognosis in AML

Answer 11

NPM!

CEBPA

Question 12

with normal karyotype, these mutations have unfavorable outcome in AML

Answer 12

FLT3

KMT2A (MLL)

Question 13

other mutation seen in AML with translocations involving core binding factor genes [t(8;21) and inv(16)]

Answer 13

KIT mutation

Question 14

most common karyotypic finding in blastic plasmacytoid dendritic cell neoplams

Answer 14

complex karyotype

Question 15

two recurrent genetic abnormalities seen in mixed phenotype acute leukemia

Answer 15

t(9;22)

KMT2A (MLL) rearrangements

Question 16

additional abnormality in Ph+ALL that gives much worse prognosis

Answer 16

minus 7

Question 17

Additional cytogenetic abnormalities commonly seen in CML and ALL

Answer 17

minus 8

+Ph

Question 18

clues to the presence of KMT2A (MLL) rearrangement in ALL

Answer 18

CD10- immunophenotype
high WBC
<1 yo

Question 19

importance of t(1;19)

Answer 19

seen in ALL

generally poor prognosis

Question 20

chromosomes preferentially lost in hypodiploid ALL

Answer 20

3,7,15,17

Question 21

chromosomes preferentially kept in hypodiploid ALL

Answer 21

14, 21, X, Y

Question 22

near diploid ALL with tetraploidy of 14 and 21 is likely

Answer 22

hypodiploid ALL with endoreduplication

Question 23

karyotypic clues to the presence of a cryptic t(12;21)

Answer 23

del(16p)
del(11q)
12p rearragements
del(16q)

Question 24

iAMP21 is what?

Answer 24

amplification of RUNX1 on ch21

unfavorable in B-ALL

Question 25

Location of IgH

Answer 25

14q

Question 26

Location of Ig Kappa

Answer 26

2p

Question 27

Location of Ig Lambda

Answer 27

22q

Question 28

t(14;18)

Answer 28

Follicular lymphoma (85-90%)
BCL2-IGH
Also in DLBCL (25-30%)

Question 29

t(8:14)

Answer 29

Burkitt lymphoma

MYC-IGH

Question 30

t(11;14)

Answer 30

IGH-CCND1

Question 31

t(11;18)

Answer 31

MALT1-BIRC3

Question 32

Location of MYC

Answer 32

8q24