Chapter 8: Tumor genetics Flashcards Preview

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Flashcards in Chapter 8: Tumor genetics Deck (70)
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1

Alveolar soft parts sarcoma

t(x;17): ASPL-TFE3

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

2

Angiomatoid fibrous histiocytoma

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

t(12;22): ATF1-EWS

t(2;22): CREB1-EWS

 

3

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

t(12;22): ATF1-EWS

t(2;22): CREB1-EWS

4

Dermatofibrosarcoma protuberans (DFSP)

t(17;22): COL1A-PDGFb
(more common; also seen in giant cell fibroblastoma)

Ring chromosome 17

5

Endometrial stromal sarcoma

t(7;17): JAZF1-JJAZ1

6

Extraskeletal myxoid chondrosarcoma

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

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

7

Ewing sarcoma

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

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

8

GIST

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

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

9

Inflammatory myofibroblastic tumor (IMT)

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

10

Congenital mesoblastic nephroma / Infantile fibrosarcoma

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

11

Intraabdominal desmoplastic small round cel tumor

t(11;22): WT1-EWS

(99% of cases, WT1 IHC+)

12

Liposarcoma, myxoid and round cell

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

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

13

Liposarcoma, well-differentiated

Ring chromosome 12: HMGA2, MDM2 amplifications

(80% of cases, MDM2 IHC+)

14

Low grade fibromyxoid sarcoma (Evans tumor)

t(7;16): CREB3L2-FUS

t(11;16): CREB3L1-FUS

15

Neuroblastoma

-1p (bad)

Double minutes (n-Myc amp, bad)

+17q (bad)

Hyperdiploidy (40%, good)

16

PEComa

TFE3 rearrangements or amplification

(only 17%, TFE3+ by IHC)

17

Rhabdomyosarcoma, alveolar

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

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

18

Rhabdomyosarcoma, embryonal

-11p15

(associated with BWS)

19

Rhabdoid tumor of the kidney and extra-renal sites

-22q11 (INI1)

(>70%, INI IHC-)

20

Seminoma and other germ cell tumors

Isochromosome (12p)

(nearly all cases)

21

Synovial sarcoma

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

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

22

Wilms tumor

-11p13: WT1 (WAGR, Denys-Drash)

-11p15: ??? (BWS)

Trisomy 12

23

Medulloblastoma

Isochromosome 17q

(50% of cases)

24

Oligodendroglioma

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

(80% of cases)

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)