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RC > Molecular > Flashcards

Molecular Flashcards

1
Q

Burkitt translocation

A

8;14

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2
Q

AML translocation

A

8;21

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3
Q

Follicular translocation

A

14;18

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4
Q

Single gene mutations associated with hereditary susceptibility to breast cancer

A

BRCA1
BRCA2
TP53
CHEK2

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5
Q

Alveolar soft part sarcoma translocation

A

ASPL-TFE3

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6
Q

Angiomatoid fibrous histiocytoma translocation

A

EWSR1-CREB1

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7
Q

Clear cell sarcoma translocation

A

EWSR1-ATF1

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8
Q

Polymorphous adenocarcinoma alterations

A

PRKD1 mutations
PRKD1/2/3 rearrangements

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9
Q

Salivary duct carcinoma alteration

A

TP53
HRAS
PIK3CA
PTEN
ERBB2
HMGA2
PLAG1

Endometrioid stuff and PA stuff

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10
Q

Secretory carcinoma translocation

A

ETV6-NTRK

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11
Q

Tumors with HMGA2/PLAG1 rearrangements

A

PA
ep-myoep CA
Salivary duct CA

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12
Q

Oligo alterations

A

IDH1/2 mutation
1p/19q codeletion
ATRX retained
p53 WT
TERT promoter mutation CIC mutations

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13
Q

Astrocytoma alterations

A

IDH1/2 mutation
ATRX loss
TP53

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14
Q

CIC-rearranged sarcoma alteration

A

CIC-DUX4

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15
Q

DFSP alteration

A

COL1A1-PDGF3

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16
Q

Desmoplastic small round cell tumor alteration

A

EWSR1-WT1

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17
Q

Epithelioid hemangioendothelioma alteration

A

CAMTA1-WWTR1

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18
Q

Extraskeletal myxoid chondrosarcoma alteration

A

EWSR1-NR4A3

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19
Q

Ewing sarcoma alteration

A

EWSR1-FLI1

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20
Q

Inflammatory myofibroblastic tumor alteration

A

ALK fusions

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21
Q

Infantile fibrosarcoma alteration

A

ETV6-NTRK3

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22
Q

Myxoid liposarcoma alteration

A

FUS-DDIT3

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23
Q

Low grade fibromyxoid sarcoma alteration

A

FUS-CREB3L2

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24
Q

Myoepithelial tumor of soft tissue alteration

A

EWSR fusions

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25
Q

Mesenchymal chondrosarcoma alteration

A

HEY1-NCOA2

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26
Q

Nodular fasciitis alteration

A

USP6-MYH

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27
Q

Aneurysmal bone cyst alteration

A

USP6-MYH

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28
Q

Alveolar rhabdomyosarcoma alteration

A

PAX3-FOXO1
PAX7-FOXO1

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29
Q

Embryonal rhabdomyosarcoma alteration

A

Loss of 11p15

30
Q

Solitary fibrous tumor alteration

A

NAB2-STAT6

31
Q

Synovial sarcoma alteration

A

SS18-SSX1/2

32
Q

Adenoid cystic carcinoma alteration

A

MYB-NFIB

33
Q

Basal cell adenoma alteration

A

CTNNB1 mutations

34
Q

Hyalinizing clear cell carcinoma alteration

A

EWSR1-ATF1

35
Q

Epithelial-myoepithelial carcinoma alteration

A

HMGA2
PLAG1
HRAS

36
Q

Low grade intraductal salivary carcinoma alteration

A

RET rearrangments

37
Q

Mucoepidermoid carcinoma alteration

A

CTRC1/3-MAML2

38
Q

Glioblastoma alteration

A

EGFR amplification
Loss of CDKN2A/B (homozygous deletion)
Loss of PTEN
TERT promoter mutation

39
Q

Atypical teratoid/rhabdoid tumor alteration

A

loss of SMARCB1

40
Q

Medulloblastoma alteration

A

WNT activation (CTNNB1 mutation)
SHH activation (PTCH1, SUFU mutations)
non-WNT, non-SHH (MYC amplification)

41
Q

Pilocytic astrocytoma alteration

A

BRAF fusion (BRAF-KIAA1549)

42
Q

Metanephric adenoma alteration

A

BRAF V600E

43
Q

Angiomyolipoma alteration

A

TSC1 (hamartin)
TSC2 (tuberin)

44
Q

Wilms tumor alteration

A

11p13 deletion (WT1)

45
Q

Malignant rhabdoid tumor of kidney alteration

A

SMARCB1

46
Q

Clear cell sarcoma of kidney alteration

A

BCOR ITD

47
Q

Neuroblastoma alteration

A

MYC-n amplification
ALK mutations
ATRX mutations
TERT rearrangements

48
Q

Lung adenocarcinoma alteration

A

EGFR mutations - younger age, female, never smokers, asian, lepidic/papillary
ALK - young, never smoker, signet ring, cribriform, mucinous
ROS1 - same as ALK
KRAS - most common in western populations

49
Q

Trinucleotide repeat disorders and genes

A

Fragile X - FRAXA
Huntington disease - HTT
Friedrich ataxia - FXN
Myotonic dystrophy - DMPK

50
Q

Colorectal adenoCA alteration

A

KRAS, NRAS, HRAS
APC inactivation
BRAF V600E
(alphabetical order) APC -> B-catenin -> KRAS -> p53

51
Q

Melanoma alteration

A

BRAF V600E
KIT

52
Q

NUT carcinoma alteration

A

BRD4/3-NUT

53
Q

Prostate CA alteration

A

TMPRSS2-ERG

54
Q

FIbrolamellar hepatocellular carcinoma alteration

A

DNAJB1-PRKACA

55
Q

Endometrial stromal sarcoma alteration

A

Low grade: JAZF1-SUZ12
High grade: YWHAE-NUTM2, BCOR ITD, BCOR fusion

56
Q

Tumor with BCOR alterations

A

round cell sarcoma w BCOR alterations
clear cell carcinoma of kidney
HG endometrial stromal sarcoma
something brainy

57
Q

Tumor with KRAS mutations

A

Pancreas
Colon
Lung
Ovary (mucinous)
Appendix

58
Q

Tumors with BRAF fusion

A

spitzoid melanoma
pilocytic astrocytoma
acinar cell CA of pancreas

59
Q

Tumors with SMARCA4/BRG1 deficiency

A

some rhabdoid tumors
Small cell carcinoma of ovary hypercalcemia typeS

60
Q

SMARCB1/INI1 deficient tumors

A

Rhabdoid tumors (renal, extrarenal, ATRT)
Epithelioid sarcoma
Myoepithelial CA of soft tissue
Medullary CA of kidney
Undifferentiated endometrioid carcinoma

61
Q

Tumor suppressors

A

APC
NF1/2
PTCH
PTEN
SMAD2/4
RB
CDKN2A
VHL
STK11
SDHB/D
CDH1
TP53
BRCA1/2
MMRs
WT1
MEN1

62
Q

Oncogenes

A

PDGFB
FGF3
HGF
ERBB1/2
RET
KIT
ALK
RAS
BRAF
NOTCH1
JAK2
MYC
CCND1
CDK4

63
Q

CML translocation

A

9;22
BCR-ABL

64
Q

Tumors with BRAF mutations

A

PTC
Anaplastic thyroid
Melanoma
CRC
hairy cell leukemia
metanephric adenoma
PXA
Epithelioid GBM
Ganglioglioma
Glioneuronal tumors
Erdheim-Chester
LCH
Papillary Craniopharyngioma
Ameloblastoma

65
Q

DDx KIT+

A

GIST
Melanoma
Mastocytosis
Seminoma
Thymic CA
AML
Giardia
Chromophobe RCC
Oncocytoma

66
Q

DDx ETV6-NTRK3

A

Infantile fibrosarcoma
Congenital mesoblastic nephroma
Secretory CA of breast
Secretory CA of salivary gland

67
Q

Gastric MALT lymphoma translocation

A

BIRC3-MALT1

68
Q

Mantle translocation

A

11;14

69
Q

Bethesda screening guidelines

A

CRC or Endometrial CA in pt <50
CRC with classic lynch morphology in pt <60
Multiple synchronous, metachronous CRC or other lynch associated tumors
1st deg relative with lynch associated tumor one of which <50
Lynch associated tumor in 2 or more 1st deg relative regardless of age

70
Q
A
71
Q

Low grade central osteosarcoma

A

MDM2 amplification

RC (20 decks)

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