Cytogenetics

Question 1

Gene of t(9;22) with variable breakpoint

Answer 1

BCR
Major breakpoint 22q11.2 (CML)  210kd
 Exons 12-14
Minor breakpoint 22q11.1 (ALL) 190 kd
   Exons (1-2)
micro breakpoint

Question 2

% of CML and ALL with cryptic BCR-ABL

Answer 2

CML 5%

ALL rare

Question 3

Critical deleted region in del(5q) syndrome

Answer 3

1.5Mb at 5q31.2

EGR1 gene

Question 4

Clinical syndrome assd with del(5q)

Answer 4

female predominant
refractory macrocytic anemia
hypolobulated micromegakaryocytic hyperplasia
indolent course

Question 5

location of TP53

Answer 5

17p13.1

Question 6

In children monosomy 7 as sole abnormality is assd with

Answer 6

MDS

JMML

Question 7

trisomy 8 is seen in ____ and is found in over 10% of ___

Answer 7

all myeloid neoplasms

MDS

Question 8

del(17p) often seen in ___

Answer 8

MDS as part of a complex karyotype
AML and RAEB
frequently therapy-related

Question 9

common cytogenetic abnormalities seenin classic MPNs

Answer 9

gain (1q)
+8, +9
del(13q)
del(20q)

Question 10

3 most common abnormalities in PV

Answer 10

+8
+9
del(20q)

Question 11

3 most common abnormalities in PMF

Answer 11

+8
13q-
del(20q)

Question 12

4 most common abnormalities in ET

Answer 12

+1q
+8, +9
del(20q)

Question 13

most common abnormality in systemic mastocytosis

Answer 13

4q12 rearrangements (KIT)

Question 14

p230 BCR-ABL fusion protein found in:

Answer 14

neutrophilic CML

Question 15

most common additional abnormalities in CML (4)

Answer 15

+Ph
+8
i(17q)
+19

Question 16

details of JAK2 mutation

Answer 16

mutation at codon 617 of JAK2 (9p24.1)

phenylalanine for valine substitution (V617F)

Question 17

other mutations seen in JAK2 neg PV patients

Answer 17

MPL
TET2
CBL

Question 18

most common abnormalities in PV progression (3)

Answer 18

del(5q)
del(7p)
del(17p)

Question 19

4-5% of patients with ET have mutations of

Answer 19

MPL

Question 20

Most common abnormality in CEL with PDGFRA

Answer 20

deletion of CHIC2 at 4q12

leading to FIP1L1-PDGFRA fusion

Question 21

most common mutation in systemic mastocytosis

Answer 21

KIT 4q12 mutation D816V

leads to relative resistance to Gleevec

Question 22

there is an association of systemic mastocytosis with what AML?

Answer 22

core binding factor AMLs

t(8;21) and inv(16)

Question 23

location of PDGFRA

Answer 23

4q12

Question 24

location of PDGFRB

Answer 24

5q33

Question 25

location of FGFR1

Answer 25

8p12

Question 26

most common translocation involving PDGFRA

Answer 26

t(4;12) PDGFRA-ETV6

Question 27

most common translocation involving PDGFRB

Answer 27

t(5;12) PDGFRB-ETV6

Question 28

most common translocation involving FGFR1

Answer 28

t(8;13) FGFR1-FLT3

Question 29

translocations involving PDGFRA and PDGFRB are associated with responsiveness to ____

Answer 29

tyrosine kinase inhibitors

Question 30

a rearrangement involivng a tyrosine kinase that is associated with T-cell lymphoma

Answer 30

t(5;9) ITK-SYK

Question 31

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

Answer 31

``` ABL1 (9q34) ABL2 (1q25) FLT3 (13q12.2) SYK (9q22) JAK2 (9q24) NTRK3 (15q25.3) ```

Question 32

7 transcription factors commonly mutated in MDS/MPN

Answer 32

``` CEBPA - 19q NPM1 - 5q WT1 - 11p TET2 - 4q RUNX1 - 21q ASXL1 - 20q CBL - 11q ```

Question 33

2 most common mutations in JMML

Answer 33

-7/del(7q) | del(5q)

Question 34

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

Answer 34

KIT mutation

Question 35

what type of AML has highest risk of CNS involvement

Answer 35

inv(16)

Question 36

"clue" to presence of inv(16) by cytogenetics

Answer 36

+22

Question 37

variant PML translocation that does not respond to ATRA

Answer 37

t(11;17) ZBTB16(PLZF)-RARA

Question 38

variant PML transolation that does respond to ATRA

Answer 38

t(5;17) NPM1-RARA

Question 39

details about AML with t(9;11)

Answer 39

monoctic/myelomonocytic phenotype CD34 negative frequent RAS mutations

Question 40

AML with basophilia

Answer 40

t(6;9) DEK-NUP214

Question 41

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

Answer 41

NPM1 | CEBPA

Question 42

With normal karyotype, these mutations have unfavorable outcome in AML

Answer 42

FLT3 | KMT2A

Question 43

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

Answer 43

KIT

Question 44

Most common karyotypic finding in blastic plasmacytoid dendritic cell neoplasm

Answer 44

complex karyotype

Question 45

Two recurrent genetic abnormalities seen in mixed phenotype acute leukemia

Answer 45

t(9;22) | KMT2A rearrangements

Question 46

additional abnormality in Ph+ ALL that gives much worse prognosis

Answer 46

minus 7

Question 47

Additional cytogenetic abnormalities commonly seen in CML and ALL

Answer 47

+8 | +Ph

Question 48

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

Answer 48

CD10- immunophenotype high WBC <1 yr old

Question 49

Importance of t(1;19)

Answer 49

seen in ALL | generally poor prognosis

Question 50

Chromosomes preferentially lost in hypodiploid ALL

Answer 50

3, 7, 15, 17