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Flashcards in Genetics Deck (47):
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

31

Fibrosarcoma translocations

t(X;18)
t(2;5)
t(7;22)

32

Infantile fibrosarcoma translocations

t(12;15) ETV6-NTRK3

33

Leiomyosarcoma translocations

Deletion 1p
t(12;14)
HMGA2 rearrangement

34

Alveolar soft part sarcoma translocation

t(X;17) ASPSCR1-TFE3

35

Hemangiopericytoma infantile form translocation

t(12;19)
t(13;22)

36

Liposarcoma (myxoid) translocation

t(12;16) FUS-DDIT3

37

Clear cell sarcoma translocation

t(12;22) EWSR1-ATF1

38

Desmoplastic small round blue cell tumor translocation

t(11;22) EWS/WT1

39

Ewing sarcoma translocations

t(11;22) - most common, EWS-FLI1
t(21;22) EWS-ERG

Chromosomal changes in 1 and 16
Trisomy 8 and 12

40

Osteosarcoma common genetic alterations

P53 (17p13)
RB1 (13q14)
Bloom syndrome RecQL3 (15q26.1)
Rothmund-Thomson RecQL4 (8q24.3)

41

Retinoblastoma genetics

RB1 (13q14) tumor suppressor

P53 (MDM2, MDM4 amplification)

BCOR mutations
SYK upregulation

42

Testicular GCT cytogenetics

Prepubertal: 6p and 1q deletions
Adolescents: i(12p), loss of 13, +21
Extragonadal: +X

43

Brain tumor predisposition syndromes and their mutation

NF1: 17q11.2 Neurofibromin
NF2: 22q12.2 Merlin
TS: 9q34, 16p13.3 hamartin and Tuberin
Li-Fraumeni: 17p13.1 TP53
VHL: 3p25.3 VHL
Turcot: 5q21-22, 3p21 APC
Gordon: 9q22 PTCH1

44

LGG genetics

BRAF-K1AA1549 fusion
BRAF V600E mutations

FGFR1, PTPN11, NTRK2 fusion

45

DIPG genetics

H3K27M

46

ATRT mutation

SMARCB1 (INI1 negative)
SMARCA4

47

Cancers associated with BWS

Wilms
Hepatoblastoma
Neuroblastoma
rhabdomyosarcoma
Adrenocorical carcinoma