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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
Q

Atypical teratoid/rhabdoid tumor (AT/RT)

A

-22q11: INI1

(75% of cases, INI IHC-)

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26
Q

Retinoblastoma

A

-13q14: Rb inactivation

(all cases)

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27
Q

Meningioma

A

Monosomy 22

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28
Q

Pilocytic astrocytoma

A

+7q34: BRAF-KIAA1549 fusion

(80% of juvenile cases)

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29
Q

Colorectal adenocarcinoma

A

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
Q

Breast cancer (broadly)

A

HER2 (ErbB2) amplification

(25% of cases, target with trastuzumab)

31
Q

Breast, secretory carcinoma

Salivary gland, mammary-analogue secretory carcinoma

A

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

(same as infantile fibrosarcoma and congenital mesoblastic nephroma)

32
Q

Lung cancer

A

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
Q

Thyroid, papillary carcinoma.

A

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
Q

Thyroid, follicular carcinoma

A

t(2;3): PAX8-PPARy1. 30-40%.

RAS: 40-50%.

35
Q

Thyroid, medullary carcinoma

A

RET activating mutation; sporadic or syndromic (MEN2). No ret-PTC

36
Q

Thyroid, anaplastic carcinoma

A

TP53: 70% (strong IHC)

b-catenin: 60%

RAS: 50%

BRAF V600E: 20%, arising from BRAF-mutant PTCs.

37
Q

Kidney, clear cell RCC

A

-3p: VHL

(70% of sporadic cases, all VHL cases, causes diffuse reactivity for CAIX)

38
Q

Kidney, papillary RCC

A

Trisomy 7, 17: MET activating mutations (both inherited and sporadic)

Deletion Y

39
Q

Kidney, translocation carcinomas

A

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
Q

Melanoma, skin

A

Mutually exclusive

BRAF: 40-50%, targetable. Not seen in mucosal.

c-KIT: 5-20%. Acral and mucosal.

41
Q

Myoepithelial carcinoma of soft tissue

A

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
Q

NUT midline carcinoma

A

t(15;19): NUT-BRD4
t(9;15): BRD3-NUT

(NUT IHC is perfect)

43
Q

Prostate cancer

A

21q22.2-3 deletion: TMPRSS2-ERG

(50% of cases, specific, associated with low gleason scores)

44
Q

Salivary gland, mucoepidermoid carcinoma

A

t(11;19): MAML2-MECT1

(66% of cases, activates NOTCH. Favorable?)

45
Q

Salivary gland, pleomoprhic adenoma

A

8q12 rerrangements; PLAG1

(70% of cases)

46
Q

Granulosa cell tumor, adult type

A

FOXL2 mutation

(almost 100% of cases, specific)

47
Q

Name the chromosome and tumor associations:

Ig-kappa, Ig-lambda, IgH

A

2, 22, 14

B-cell lymphomas

48
Q

Name the chromosome and tumor associations:

TCR alpha/delta, TCR beta/gamma

A

14, 7

T-cell leukemias/lymphomas

49
Q

Name the chromosome and tumor associations:

c-Myc

A

Chr 8

Burkitt lymphoma

50
Q

Name the chromosome and tumor associations:

n-Myc

A

Chr 2

Neuroblastoma

51
Q

Name the chromosome and tumor associations:

Bcl-2

A

Chr 18

Follicular lymphoma, DLBCL

52
Q

Name the chromosome and tumor associations:

p53

A

Chr 17p

Mutated in many sporadic tumors (associated with overexpression), and in Li-Fraumeni syndrome.

53
Q

Name the chromosome and tumor associations:

BCR-ABL

A

Chr 9 (ABL) + Chr 22 (BCR)

CML (p210, p230), B-ALL (p190)

54
Q

Name the chromosome and tumor associations:

WT-1

A

Chr 11p13

Wilms tumor, Desmoplastic small round cell tumor

55
Q

Name the chromosome and tumor associations:

EWS

A

Chr 22

Ewing sarcoma, desmoplastic small round cell tumor, clear cell sarcoma, angiomatoid fibrous histiocytoma, myxoid liposarcoma, extraskeletal myxoid chondrosarcoma.

56
Q

Name the chromosome and tumor associations:

ALK

A

Chr 2

ALCL, inflammatory myofibroblastic tumor, lung adenocarcinomas (EML4-ALK)

57
Q

Name the chromosome and tumor associations:

ETV6 (TEL)

A

Chr 12

Precursor B-ALL, CMML with eosinophilia, infantile fibrosarcoma, congenital mesoblastic nephroma, secretory breast carcinoma, MASC

58
Q

Name the chromosome and tumor associations:

TFE3

A

Chr Xp11.2

Alveolar soft parts sarcoma, RCC with Xp11.2, PEComas

59
Q

Name the chromosome and tumor associations:

INI-1

A

Rhabdoid tumors (AT/RT, renal and extra-renal rhabdoid tumors)

60
Q

Name the chromosome and tumor associations:

FUS (TLS)

A

Chr 16p11

Myxoid liposarcoma, low grade fibromyxoid sarcoma, angiomatoid fibrous histiocytoma

61
Q

Name the chromosome and tumor associations:

MLL

A

Chr 11p23

AML (M5), AML following topoisomerase inhibitor therapy, B-ALL

62
Q

Name the chromosome and tumor associations:

VHL

A

Chr 3p

Clear cell RCC, VHL syndrome

63
Q

Name the chromosome and tumor associations:

RET

A

Chr 10

Thyroid carcinomas, MEN2a/2b, Hirschsprung’s (inactivating mutation)

64
Q

Name the chromosome and tumor associations:

MET

A

Chr 7

Papillary RCC

65
Q

Name the chromosome and tumor associations:

K-RAS

A

Chr 12

Many tumors: Pancreas, colon, lung, mucinous ovary

66
Q

Name the chromosome and tumor associations:

BRAF

A

Chr 7

Papillary thyroid carcinoma, melanoma, colorectal carcinoma

67
Q

Name the chromosome and tumor associations:

c-Kit

A

Chr 4

GIST, melanoma, mastocytosis

68
Q

Name the chromosome and tumor associations:

PDGFR

A

Chr 4

GIST, hematolymphoid neoplasms with eosinophilia and abnormalities of PDGFRA/B

69
Q

Name the chromosome and tumor associations:

EGFR

A

Chr 7

Lung adenocarcinoma (amplified)

70
Q

Name the chromosome and tumor associations:

Her2

A

Chr 17

Amplified in breast cancer

Quick Reference Handbook for Surgical Pathologists (9 decks)

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