Cytogenetics 1

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) 190kd, 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)

Answer 3

1.5 Mb at 5q31.2

EGR1 gene

Question 4

del(5q) syndrome

Answer 4

female predominant
refractory macrocytic anemia
hypolobulated micromegakaryocytic hyperplasia
indolent course

Question 5

Location of TP53

Answer 5

17p13.1

Question 6

In childre, monosome 7 as sole abnormality is assd with

Answer 6

MDS

JMML

Question 7

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

Answer 7

all myeloid neoplasms

MDS

Question 8

del(17p) is often seen in ___

Answer 8

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

Question 9

common cytogenetic abnormalities seen in 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 frotein 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 (9p24.1)

phenylalanine for valine sub (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 mutation 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 mutaion D816V

leads to relative Gleevec resistance

Question 22

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 involving a tyrosine kinase that is associated with T-cell lymphoma

Answer 30

t(5;9) ITK-SYK