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Hematopathology > Cytogenetics > Flashcards

Cytogenetics Flashcards

1
Q

Gene of t(9;22) with variable breakpoint

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

% of CML and ALL with cryptic BCR-ABL

A

CML 5%

ALL rare

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3
Q

Critical deleted region in del(5q) syndrome

A

1.5Mb at 5q31.2

EGR1 gene

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4
Q

Clinical syndrome assd with del(5q)

A

female predominant
refractory macrocytic anemia
hypolobulated micromegakaryocytic hyperplasia
indolent course

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5
Q

location of TP53

A

17p13.1

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6
Q

In children monosomy 7 as sole abnormality is assd with

A

MDS

JMML

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7
Q

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

A

all myeloid neoplasms

MDS

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8
Q

del(17p) often seen in ___

A

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

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9
Q

common cytogenetic abnormalities seenin classic MPNs

A

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

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10
Q

3 most common abnormalities in PV

A

+8
+9
del(20q)

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11
Q

3 most common abnormalities in PMF

A

+8
13q-
del(20q)

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12
Q

4 most common abnormalities in ET

A

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

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13
Q

most common abnormality in systemic mastocytosis

A

4q12 rearrangements (KIT)

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14
Q

p230 BCR-ABL fusion protein found in:

A

neutrophilic CML

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15
Q

most common additional abnormalities in CML (4)

A

+Ph
+8
i(17q)
+19

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16
Q

details of JAK2 mutation

A

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

phenylalanine for valine substitution (V617F)

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17
Q

other mutations seen in JAK2 neg PV patients

A

MPL
TET2
CBL

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18
Q

most common abnormalities in PV progression (3)

A

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

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19
Q

4-5% of patients with ET have mutations of

A

MPL

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20
Q

Most common abnormality in CEL with PDGFRA

A

deletion of CHIC2 at 4q12

leading to FIP1L1-PDGFRA fusion

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21
Q

most common mutation in systemic mastocytosis

A

KIT 4q12 mutation D816V

leads to relative resistance to Gleevec

22
Q

there is an association of systemic mastocytosis with what AML?

A

core binding factor AMLs

t(8;21) and inv(16)

23
Q

location of PDGFRA

A

4q12

24
Q

location of PDGFRB

A

5q33

25
Q

location of FGFR1

A

8p12

26
Q

most common translocation involving PDGFRA

A

t(4;12) PDGFRA-ETV6

27
Q

most common translocation involving PDGFRB

A

t(5;12) PDGFRB-ETV6

28
Q

most common translocation involving FGFR1

A

t(8;13) FGFR1-FLT3

29
Q

translocations involving PDGFRA and PDGFRB are associated with responsiveness to ____

A

tyrosine kinase inhibitors

30
Q

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

A

t(5;9) ITK-SYK

31
Q

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

A 
ABL1 (9q34)
ABL2 (1q25)
FLT3 (13q12.2)
SYK (9q22)
JAK2 (9q24)
NTRK3 (15q25.3)
32
Q

7 transcription factors commonly mutated in MDS/MPN

A 
CEBPA - 19q
NPM1 - 5q
WT1 - 11p
TET2 - 4q
RUNX1 - 21q
ASXL1 - 20q
CBL - 11q
33
Q

2 most common mutations in JMML

A

-7/del(7q)

del(5q)

34
Q

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

A

KIT mutation

35
Q

what type of AML has highest risk of CNS involvement

A

inv(16)

36
Q

“clue” to presence of inv(16) by cytogenetics

A

+22

37
Q

variant PML translocation that does not respond to ATRA

A

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

38
Q

variant PML transolation that does respond to ATRA

A

t(5;17) NPM1-RARA

39
Q

details about AML with t(9;11)

A

monoctic/myelomonocytic phenotype
CD34 negative
frequent RAS mutations

40
Q

AML with basophilia

A

t(6;9) DEK-NUP214

41
Q

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

A

NPM1

CEBPA

42
Q

With normal karyotype, these mutations have unfavorable outcome in AML

A

FLT3

KMT2A

43
Q

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

A

KIT

44
Q

Most common karyotypic finding in blastic plasmacytoid dendritic cell neoplasm

A

complex karyotype

45
Q

Two recurrent genetic abnormalities seen in mixed phenotype acute leukemia

A

t(9;22)

KMT2A rearrangements

46
Q

additional abnormality in Ph+ ALL that gives much worse prognosis

A

minus 7

47
Q

Additional cytogenetic abnormalities commonly seen in CML and ALL

A

+8

+Ph

48
Q

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

A

CD10- immunophenotype
high WBC
<1 yr old

49
Q

Importance of t(1;19)

A

seen in ALL

generally poor prognosis

50
Q

Chromosomes preferentially lost in hypodiploid ALL

A

3, 7, 15, 17

Hematopathology (15 decks)

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