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SADL Oncology > Genetics > Flashcards

Genetics Flashcards

1
Q

AML translocations

A 
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
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2
Q

T21 AML mutation

A

GATA1

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3
Q

MDS mutations

A

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

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4
Q

AML favorable mutations

A 
CEBP alpha
NPM1
GATA1
t(8;21)
inv(16) or t(16;16)
t(15;17)
t(1;11)
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5
Q

AML unfavorable genetics

A

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

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6
Q

ALL translocations

A 
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

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7
Q

ALL favorable genetics

A

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

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8
Q

ALL unfavorable genetics

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

T21 ALL

A

absence of favorable genetics

1/3 have JAK2 and unique fusion between P2RY8 and CRLF2 leading to CRLF2 overexpression

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10
Q

Burkitt lymphoma translocations

A

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

C-MYC
IGH
IGK
IGL

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11
Q

Primary mediastinal B cell genetics

A

9p and 2p gains

JAK2
C-rel
SOCS1

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12
Q

Lymphoblastic lymphoma genetics

A

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

TAL1
TCRAO
RHOMB1
HOX11
NOTCH1
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13
Q

ALCL translocations

A

t(2;5)

ALK
NPM

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14
Q

Diffuse Large B Cell lymphoma genetics

A

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

Activated B cell like t(14;18)

IRF4 translocations (favorable)

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15
Q

Hodgkin lymphoma genetics

A

NFkB

9p24.1 alterations lead to increased PDL1

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16
Q

Familial neuroblastoma genetics

A

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

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17
Q

Sporadic NBL gremline mutations

A

NF-1
WT2
TP53
PTPN11

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18
Q

Neuroblastoma genetics changes (non-hereditary)

A 
Myc-N amplification
17q gain
1p36 (MYCNA)
11q23 
14q32
Whole chromosome gains
ALK
ATRX
ARID1a/1b
Ras pathway
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19
Q

Syndromic Wilms genetics

A 
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
Q

Wilms genetic alterations

A 
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
Q

Congenital mesoblastic nephroma translocations

A

t(12;15) - cellular CMN

22
Q

Rhabdoid tumor

A

SMARCB1 (lack of INI1)

SMARCA4

23
Q

Rental cell carcinoma genetics

A

TFE3 gene on X chromosome

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

24
Q

Embryonal RMS genetics

A

LOH at 11p15

25
Q

Alveolar RMS genetics

A

FOXO1-PAX3 t(2;13)

FOXO1-PAX7 t(1;13)

26
Q

Synovial sarcoma translocation

A

t(X;18) SSX1-SYT

27
Q

Dermatofibrosarcoma protuberans translocation

A

t(17;22) COL1A1-PDGFB

28
Q

Malignant fibrous histiocytoma

A

19p+

29
Q

Angiomatoid fibrous histiocytoma

A

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

EWSR1-CREB1
TLS-ATF1
EWSR1-ATF1

30
Q

MPNST translocation

A

17q, 22q loss or rearrangement

31
Q

Fibrosarcoma translocations

A

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

32
Q

Infantile fibrosarcoma translocations

A

t(12;15) ETV6-NTRK3

33
Q

Leiomyosarcoma translocations

A

Deletion 1p
t(12;14)
HMGA2 rearrangement

34
Q

Alveolar soft part sarcoma translocation

A

t(X;17) ASPSCR1-TFE3

35
Q

Hemangiopericytoma infantile form translocation

A

t(12;19)

t(13;22)

36
Q

Liposarcoma (myxoid) translocation

A

t(12;16) FUS-DDIT3

37
Q

Clear cell sarcoma translocation

A

t(12;22) EWSR1-ATF1

38
Q

Desmoplastic small round blue cell tumor translocation

A

t(11;22) EWS/WT1

39
Q

Ewing sarcoma translocations

A

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

Chromosomal changes in 1 and 16
Trisomy 8 and 12

40
Q

Osteosarcoma common genetic alterations

A

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

41
Q

Retinoblastoma genetics

A

RB1 (13q14) tumor suppressor

P53 (MDM2, MDM4 amplification)

BCOR mutations
SYK upregulation

42
Q

Testicular GCT cytogenetics

A

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

43
Q

Brain tumor predisposition syndromes and their mutation

A 
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
Q

LGG genetics

A

BRAF-K1AA1549 fusion
BRAF V600E mutations

FGFR1, PTPN11, NTRK2 fusion

45
Q

DIPG genetics

A

H3K27M

46
Q

ATRT mutation

A

SMARCB1 (INI1 negative)

SMARCA4

47
Q

Cancers associated with BWS

A 
Wilms
Hepatoblastoma
Neuroblastoma
rhabdomyosarcoma
Adrenocorical carcinoma

SADL Oncology (17 decks)

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