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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
Mesenchymal chondrosarcoma alteration
HEY1-NCOA2
26
Nodular fasciitis alteration
USP6-MYH
27
Aneurysmal bone cyst alteration
USP6-MYH
28
Alveolar rhabdomyosarcoma alteration
PAX3-FOXO1 PAX7-FOXO1
29
Embryonal rhabdomyosarcoma alteration
Loss of 11p15
30
Solitary fibrous tumor alteration
NAB2-STAT6
31
Synovial sarcoma alteration
SS18-SSX1/2
32
Adenoid cystic carcinoma alteration
MYB-NFIB
33
Basal cell adenoma alteration
CTNNB1 mutations
34
Hyalinizing clear cell carcinoma alteration
EWSR1-ATF1
35
Epithelial-myoepithelial carcinoma alteration
HMGA2 PLAG1 HRAS
36
Low grade intraductal salivary carcinoma alteration
RET rearrangments
37
Mucoepidermoid carcinoma alteration
CTRC1/3-MAML2
38
Glioblastoma alteration
EGFR amplification Loss of CDKN2A/B (homozygous deletion) Loss of PTEN TERT promoter mutation
39
Atypical teratoid/rhabdoid tumor alteration
loss of SMARCB1
40
Medulloblastoma alteration
WNT activation (CTNNB1 mutation) SHH activation (PTCH1, SUFU mutations) non-WNT, non-SHH (MYC amplification)
41
Pilocytic astrocytoma alteration
BRAF fusion (BRAF-KIAA1549)
42
Metanephric adenoma alteration
BRAF V600E
43
Angiomyolipoma alteration
TSC1 (hamartin) TSC2 (tuberin)
44
Wilms tumor alteration
11p13 deletion (WT1)
45
Malignant rhabdoid tumor of kidney alteration
SMARCB1
46
Clear cell sarcoma of kidney alteration
BCOR ITD
47
Neuroblastoma alteration
MYC-n amplification ALK mutations ATRX mutations TERT rearrangements
48
Lung adenocarcinoma alteration
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
Trinucleotide repeat disorders and genes
Fragile X - FRAXA Huntington disease - HTT Friedrich ataxia - FXN Myotonic dystrophy - DMPK
50
Colorectal adenoCA alteration
KRAS, NRAS, HRAS APC inactivation BRAF V600E (alphabetical order) APC -> B-catenin -> KRAS -> p53
51
Melanoma alteration
BRAF V600E KIT
52
NUT carcinoma alteration
BRD4/3-NUT
53
Prostate CA alteration
TMPRSS2-ERG
54
FIbrolamellar hepatocellular carcinoma alteration
DNAJB1-PRKACA
55
Endometrial stromal sarcoma alteration
Low grade: JAZF1-SUZ12 High grade: YWHAE-NUTM2, BCOR ITD, BCOR fusion
56
Tumor with BCOR alterations
round cell sarcoma w BCOR alterations clear cell carcinoma of kidney HG endometrial stromal sarcoma something brainy
57
Tumor with KRAS mutations
Pancreas Colon Lung Ovary (mucinous) Appendix
58
Tumors with BRAF fusion
spitzoid melanoma pilocytic astrocytoma acinar cell CA of pancreas
59
Tumors with SMARCA4/BRG1 deficiency
some rhabdoid tumors Small cell carcinoma of ovary hypercalcemia typeS
60
SMARCB1/INI1 deficient tumors
Rhabdoid tumors (renal, extrarenal, ATRT) Epithelioid sarcoma Myoepithelial CA of soft tissue Medullary CA of kidney Undifferentiated endometrioid carcinoma
61
Tumor suppressors
APC NF1/2 PTCH PTEN SMAD2/4 RB CDKN2A VHL STK11 SDHB/D CDH1 TP53 BRCA1/2 MMRs WT1 MEN1
62
Oncogenes
PDGFB FGF3 HGF ERBB1/2 RET KIT ALK RAS BRAF NOTCH1 JAK2 MYC CCND1 CDK4
63
CML translocation
9;22 BCR-ABL
64
Tumors with BRAF mutations
PTC Anaplastic thyroid Melanoma CRC hairy cell leukemia metanephric adenoma PXA Epithelioid GBM Ganglioglioma Glioneuronal tumors Erdheim-Chester LCH Papillary Craniopharyngioma Ameloblastoma
65
DDx KIT+
GIST Melanoma Mastocytosis Seminoma Thymic CA AML Giardia Chromophobe RCC Oncocytoma
66
DDx ETV6-NTRK3
Infantile fibrosarcoma Congenital mesoblastic nephroma Secretory CA of breast Secretory CA of salivary gland
67
Gastric MALT lymphoma translocation
BIRC3-MALT1
68
Mantle translocation
11;14
69
Bethesda screening guidelines
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
71
Low grade central osteosarcoma
MDM2 amplification

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