Cytogenetics 1 Flashcards
Gene of t(9;22) with variable breakpoint
BCR
Major breakpoint 22q11.2 (CML) 210kd, Exons 12-14
Minor breakpoint 22q11.1 (ALL) 190kd, Exons 1-2
Micro breakpoint
% of CML and ALL with cryptic BCR-ABL
CML 5%
ALL rare
Critical deleted region in del(5q)
1.5 Mb at 5q31.2
EGR1 gene
del(5q) syndrome
female predominant
refractory macrocytic anemia
hypolobulated micromegakaryocytic hyperplasia
indolent course
Location of TP53
17p13.1
In childre, monosome 7 as sole abnormality is assd with
MDS
JMML
trisomy 8 is seen in ___ as is found in over 10% of ____
all myeloid neoplasms
MDS
del(17p) is often seen in ___
MDS as part of complex karyotype
AML and RAEB
frequently therapy-related
common cytogenetic abnormalities seen in classic MPNs
gain (1q) \+8 \+9 del(13q) del(20q)
3 most common abnormalities in PV
+8
+9
del(20q)
3 most common abnormalities in PMF
+8
13q-
del(20q)
4 most common abnormalities in ET
+1q
+8
+9
del(20q)
most common abnormality in systemic mastocytosis
4q12 rearrangements (KIT)
p230 BCR-ABL fusion frotein found in
neutrophilic CML
most common additional abnormalities in CML (4)
+Ph
+8
i(17q)
+19
details of JAK2 mutation
mutation at codon 617 (9p24.1)
phenylalanine for valine sub (V617F)
Other mutations seen in JAK2 neg PV patients
MPL
TET2
CBL
most common abnormalities in PV progression (3)
del(5q)
del(7p)
del(17p)
4-5% of patients with ET have mutation of
MPL
most common abnormality in CEL with PDGFRA
deletion of CHIC2 at 4q12 leading to FIP1L1-PDGFRA fusion
most common mutation in systemic mastocytosis
KIT 4q12 mutaion D816V
leads to relative Gleevec resistance
association of systemic mastocytosis with what AML
core binding factor AMLs
t(8;21) and inv(16)
location of PDGFRA
4q12
location of PDGFRB
5q33
