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Quick Reference Handbook for Surgical Pathologists > Chapter 8: Tumor genetics > Flashcards

Chapter 8: Tumor genetics Flashcards

1
Q

Alveolar soft parts sarcoma

A

t(x;17): ASPL-TFE3

Seen in >90% of cases. TFE+ IHC.

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2
Q

Angiomatoid fibrous histiocytoma

A

t(12;16): ATF1-FUS/TLS

t(12;22): ATF1-EWS

t(2;22): CREB1-EWS

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3
Q

Clear cell sarcoma of tendon sheath (melanoma of soft parts)

A

t(12;22): ATF1-EWS

t(2;22): CREB1-EWS

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4
Q

Dermatofibrosarcoma protuberans (DFSP)

A

t(17;22): COL1A-PDGFb

Ring chromosome 17

(more common; also seen in giant cell fibroblastoma)

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5
Q

Endometrial stromal sarcoma

A

t(7;17): JAZF1-JJAZ1

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6
Q

Extraskeletal myxoid chondrosarcoma

A

t(9;22): CHN(TEC)-EWS

t(9;17): CHN(TEC)-RBP56

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7
Q

Ewing sarcoma

A

t(11;22): FLI1-EWS (most common, IHC)

t(21;22): ERG-EWS (5%)

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8
Q

GIST

A

c-Kit mutations in 80% (95% IHC+)

PDGFRA mutations in 10% (epithelioid, c-Kit negative)

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9
Q

Inflammatory myofibroblastic tumor (IMT)

A

Various translocations of 2p23: ALK1 fusions (ALK+ IHC in 30% of cases)

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10
Q

Congenital mesoblastic nephroma / Infantile fibrosarcoma

A

t(12;15): ETV6(TEL)-NTRK3

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11
Q

Intraabdominal desmoplastic small round cel tumor

A

t(11;22): WT1-EWS

(99% of cases, WT1 IHC+)

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12
Q

Liposarcoma, myxoid and round cell

A

t(12;16): CHOP-FUS/TLS (>90% of cases)

t(12;22): CHOP-EWS (rare)

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13
Q

Liposarcoma, well-differentiated

A

Ring chromosome 12: HMGA2, MDM2 amplifications

(80% of cases, MDM2 IHC+)

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14
Q

Low grade fibromyxoid sarcoma (Evans tumor)

A

t(7;16): CREB3L2-FUS

t(11;16): CREB3L1-FUS

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15
Q

Neuroblastoma

A

-1p (bad)

Double minutes (n-Myc amp, bad)

+17q (bad)

Hyperdiploidy (40%, good)

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16
Q

PEComa

A

TFE3 rearrangements or amplification

(only 17%, TFE3+ by IHC)

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17
Q

Rhabdomyosarcoma, alveolar

A

t(2;13): PAX3-FKHR (70%, poor)

t(1;13): PAX7-FKHR (rare, favorable)

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18
Q

Rhabdomyosarcoma, embryonal

A

-11p15

(associated with BWS)

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19
Q

Rhabdoid tumor of the kidney and extra-renal sites

A

-22q11 (INI1)

(>70%, INI IHC-)

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20
Q

Seminoma and other germ cell tumors

A

Isochromosome (12p)

(nearly all cases)

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21
Q

Synovial sarcoma

A

t(x;18): SYT-SSX1 (monophasic or biphasic)

t(x;18): SYT-SSX2 (monophasic, favorable)

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22
Q

Wilms tumor

A
  • 11p13: WT1 (WAGR, Denys-Drash)
  • 11p15: ??? (BWS)

Trisomy 12

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23
Q

Medulloblastoma

A

Isochromosome 17q

(50% of cases)

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24
Q

Oligodendroglioma

A

1p/19q deletion (LOH, vs astrocytoma)

(80% of cases)

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25
Atypical teratoid/rhabdoid tumor (AT/RT)
-22q11: INI1 | (75% of cases, INI IHC-)
26
Retinoblastoma
-13q14: Rb inactivation | (all cases)
27
Meningioma
Monosomy 22
28
Pilocytic astrocytoma
+7q34: BRAF-KIAA1549 fusion | (80% of juvenile cases)
29
Colorectal adenocarcinoma
APC: 80% of cases, FAP-associated, b-catenin nuclear expression MMRP: 10-15% of cases, Lynch-associated. **hMLH1** is more commonly sporadic. The others are usually Lynch. K-RAS: 35% of cases, may predict resistance to EGFR blockers.
30
Breast cancer (broadly)
HER2 (ErbB2) amplification | (25% of cases, target with trastuzumab)
31
Breast, secretory carcinoma Salivary gland, mammary-analogue secretory carcinoma
t(12;15): ETV6(TEL)-NTRK3 (same as infantile fibrosarcoma and congenital mesoblastic nephroma)
32
Lung cancer
EGFR (HER1): 15%, usually asian/women/non-smoker, targetable (Erlotinib). K-RAS: 30%, predicts lack of response to EGFR inhibitors. Smokers. Mucinous? Inv(2): EML4-ALK, 5%, target with Crizotinib. Signet-ring?
33
Thyroid, papillary carcinoma.
10q11.2 translocation/inversion: RET-PTC fusions. 20%, children, post-radiation. 1q21 translocation: NTRK1 fusion. 10%. BRAF V600E: 30-50%, tall-cell variant. RAS: 10%
34
Thyroid, follicular carcinoma
t(2;3): PAX8-PPARy1. 30-40%. RAS: 40-50%.
35
Thyroid, medullary carcinoma
RET activating mutation; sporadic or syndromic (MEN2). No ret-PTC
36
Thyroid, anaplastic carcinoma
TP53: 70% (strong IHC) b-catenin: 60% RAS: 50% BRAF V600E: 20%, arising from BRAF-mutant PTCs.
37
Kidney, clear cell RCC
-3p: VHL (70% of sporadic cases, all VHL cases, causes diffuse reactivity for CAIX)
38
Kidney, papillary RCC
Trisomy 7, 17: MET activating mutations (both inherited and sporadic) Deletion Y
39
Kidney, translocation carcinomas
t(X;17): TFE3-ASPL t(X;1): TFE3-PRCC t(X;1): TFE3-PSF (papillary architecture, psammoma bodies, TFE3 IHC+) t(6;11): TFEB-alpha (eosinophilic cells, TFEB IHC+)
40
Melanoma, skin
_Mutually exclusive_ BRAF: 40-50%, targetable. Not seen in mucosal. c-KIT: 5-20%. Acral and mucosal.
41
Myoepithelial carcinoma of soft tissue
t(19;22): EWS-ZNF444 t(16;22): EWS-POUF1 t(1;22): EWS-PBX1 (45% of cases, seen in children, never in salivary gland. INI-?)
42
NUT midline carcinoma
t(15;19): NUT-BRD4 t(9;15): BRD3-NUT | (NUT IHC is perfect)
43
Prostate cancer
21q22.2-3 deletion: TMPRSS2-ERG (50% of cases, specific, associated with low gleason scores)
44
Salivary gland, mucoepidermoid carcinoma
t(11;19): MAML2-MECT1 (66% of cases, activates NOTCH. Favorable?)
45
Salivary gland, pleomoprhic adenoma
8q12 rerrangements; PLAG1 | (70% of cases)
46
Granulosa cell tumor, adult type
FOXL2 mutation | (almost 100% of cases, specific)
47
Name the chromosome and tumor associations: Ig-kappa, Ig-lambda, IgH
2, 22, 14 B-cell lymphomas
48
Name the chromosome and tumor associations: TCR alpha/delta, TCR beta/gamma
14, 7 T-cell leukemias/lymphomas
49
Name the chromosome and tumor associations: c-Myc
Chr 8 Burkitt lymphoma
50
Name the chromosome and tumor associations: n-Myc
Chr 2 Neuroblastoma
51
Name the chromosome and tumor associations: Bcl-2
Chr 18 Follicular lymphoma, DLBCL
52
Name the chromosome and tumor associations: p53
Chr 17p Mutated in many sporadic tumors (associated with overexpression), and in Li-Fraumeni syndrome.
53
Name the chromosome and tumor associations: BCR-ABL
Chr 9 (ABL) + Chr 22 (BCR) CML (p210, p230), B-ALL (p190)
54
Name the chromosome and tumor associations: WT-1
Chr 11p13 Wilms tumor, Desmoplastic small round cell tumor
55
Name the chromosome and tumor associations: EWS
Chr 22 Ewing sarcoma, desmoplastic small round cell tumor, clear cell sarcoma, angiomatoid fibrous histiocytoma, myxoid liposarcoma, extraskeletal myxoid chondrosarcoma.
56
Name the chromosome and tumor associations: ALK
Chr 2 ALCL, inflammatory myofibroblastic tumor, lung adenocarcinomas (EML4-ALK)
57
Name the chromosome and tumor associations: ETV6 (TEL)
Chr 12 Precursor B-ALL, CMML with eosinophilia, infantile fibrosarcoma, congenital mesoblastic nephroma, secretory breast carcinoma, MASC
58
Name the chromosome and tumor associations: TFE3
Chr Xp11.2 Alveolar soft parts sarcoma, RCC with Xp11.2, PEComas
59
Name the chromosome and tumor associations: INI-1
Rhabdoid tumors (AT/RT, renal and extra-renal rhabdoid tumors)
60
Name the chromosome and tumor associations: FUS (TLS)
Chr 16p11 Myxoid liposarcoma, low grade fibromyxoid sarcoma, angiomatoid fibrous histiocytoma
61
Name the chromosome and tumor associations: MLL
Chr 11p23 AML (M5), AML following topoisomerase inhibitor therapy, B-ALL
62
Name the chromosome and tumor associations: VHL
Chr 3p Clear cell RCC, VHL syndrome
63
Name the chromosome and tumor associations: RET
Chr 10 Thyroid carcinomas, MEN2a/2b, Hirschsprung's (inactivating mutation)
64
Name the chromosome and tumor associations: MET
Chr 7 Papillary RCC
65
Name the chromosome and tumor associations: K-RAS
Chr 12 Many tumors: Pancreas, colon, lung, mucinous ovary
66
Name the chromosome and tumor associations: BRAF
Chr 7 Papillary thyroid carcinoma, melanoma, colorectal carcinoma
67
Name the chromosome and tumor associations: c-Kit
Chr 4 GIST, melanoma, mastocytosis
68
Name the chromosome and tumor associations: PDGFR
Chr 4 GIST, hematolymphoid neoplasms with eosinophilia and abnormalities of PDGFRA/B
69
Name the chromosome and tumor associations: EGFR
Chr 7 Lung adenocarcinoma (amplified)
70
Name the chromosome and tumor associations: Her2
Chr 17 Amplified in breast cancer

Quick Reference Handbook for Surgical Pathologists (9 decks)

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