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Flashcards in Genetics Deck (47)
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1

AML translocations

t(8;21) RUNX1-RUNX1T1
inv(16) or t(16;16) CBFB-MYH11
t(15;17) PML-RARA
t(9;11) MLLT3-KMT2A
t(6:9) DEK-NUP214
inv(3) or t(3;3) GATA2
t(1;22) RBM15-MKL1
t(9;22)
NPM1
CEBPA

2

T21 AML mutation

GATA1

3

MDS mutations

Monosomy 7
Monosomy 5
-5q deletion
-7q deletion

4

AML favorable mutations

CEBP alpha
NPM1
GATA1
t(8;21)
inv(16) or t(16;16)
t(15;17)
t(1;11)

5

AML unfavorable genetics

FLT3-ITD
c-KIT
MDS
t(6;11), t(10;11)

6

ALL translocations

t(12;21) ETV6-RUNX1
t(1;19) TCF3-PBX1
t(17;19) TCF3-HLF (DIC)
11q23 MLL - t(4;11) most common
t(9;22) BCR-ABL
t(5;14) IL3-IGH (hypereosinophilia)
hylerdiploidy/hypodiploidy
Trisomy 4, 10, 17

CRLF2 gene overexpression (Ph like)

t(8;14), t(2;8), t(8;22) - Burkitt Leukemia

7

ALL favorable genetics

Hyperdiploid (>50)
Trisomy 4, 10, 17
t(12;21) ETv6-RUNX1

8

ALL unfavorable genetics

hypodiploid (< 44)
MLL (KMT2A)
t(9;22)
iAMP21
t(17;19)

9

T21 ALL

absence of favorable genetics
1/3 have JAK2 and unique fusion between P2RY8 and CRLF2 leading to CRLF2 overexpression

10

Burkitt lymphoma translocations

t(8;14)
t(2;8)
t(8;22)

C-MYC
IGH
IGK
IGL

11

Primary mediastinal B cell genetics

9p and 2p gains

JAK2
C-rel
SOCS1

12

Lymphoblastic lymphoma genetics

Deletion TAL1
t(1;14)
t(11;14)
LOH at 6q

TAL1
TCRAO
RHOMB1
HOX11
NOTCH1

13

ALCL translocations

t(2;5)

ALK
NPM

14

Diffuse Large B Cell lymphoma genetics

2/3 express BCL-6
1/3 express cMYC

Activated B cell like t(14;18)

IRF4 translocations (favorable)

15

Hodgkin lymphoma genetics

NFkB
9p24.1 alterations lead to increased PDL1

16

Familial neuroblastoma genetics

ALK
PHOX2B (Hirschprung’s, central hypoventilation)
Deletion 1p36 or 11q14-23

17

Sporadic NBL gremline mutations

NF-1
WT2
TP53
PTPN11

18

Neuroblastoma genetics changes (non-hereditary)

Myc-N amplification
17q gain
1p36 (MYCNA)
11q23
14q32
Whole chromosome gains
ALK
ATRX
ARID1a/1b
Ras pathway

19

Syndromic Wilms genetics

11p13 WT1 - WAGR
11p13 WT1 - Denys-Drash
11p13 WT1 - Frasier
11p15 WT2 - BWS/isolated hemihypertrophy
2q37 DIS3L2 - Perlman
15q15 BUB1B - mosaic variegated aneuploidy
13q12 BRCA2 - fanconi anemia
Xp26 GPC3 - Simpson-Golabi-Behmel
P53

20

Wilms genetic alterations

WT1 deletion/mutation
11p15 paternal uniparental disomy
WTX
CTNNB1 - WT1 associated (exon 3 deletion) or WTX associated (exon 7 and 8 deletions)
P53
LOH 1p and 16q
1q gain
DICER1 loss of function
DROSHA loss of function
SIX1/2 mutations
PTCH
MYC-N

21

Congenital mesoblastic nephroma translocations

t(12;15) - cellular CMN

22

Rhabdoid tumor

SMARCB1 (lack of INI1)
SMARCA4

23

Rental cell carcinoma genetics

TFE3 gene on X chromosome

VHL- 3p26 deletion (tumor suppression)
Familial RCC - chromosome 3 translocation, succinate dehydrogenase (SDHB, SDHC, SDHD) mutation with pheochromocytoma

24

Embryonal RMS genetics

LOH at 11p15

25

Alveolar RMS genetics

FOXO1-PAX3 t(2;13)
FOXO1-PAX7 t(1;13)

26

Synovial sarcoma translocation

t(X;18) SSX1-SYT

27

Dermatofibrosarcoma protuberans translocation

t(17;22) COL1A1-PDGFB

28

Malignant fibrous histiocytoma

19p+

29

Angiomatoid fibrous histiocytoma

t(2;22)
t(12;16)
t(12;22)

EWSR1-CREB1
TLS-ATF1
EWSR1-ATF1

30

MPNST translocation

17q, 22q loss or rearrangement