Classic genetic aberrations and other gene stuff

Question 1

Extraskeletal myxoid chrondrosarcoma

Answer 1

EWSR1-NR4A3 translocation

Question 2

Mesothelioma

Answer 2

CDKN2A (p16 loss) - supportive of malignancy but not diagnostic

Question 3

Alveolar Rhabdomyosarcoma

Answer 3

PAX3-FOX01 fusion

Question 4

Alveolar soft parts sarcoma

Answer 4

ASPL-TFE3 fusion

Question 5

Well diff. liposarcoma

Answer 5

Amplification of MDM2

Question 6

Clear cell sarcoma (melanoma of soft parts)

Answer 6

EWSR1-ATF1 fusion - causes activation of MiTF(melanocyte transcription factor)

Question 7

Congenital infantile fibrosarcoma

Answer 7

ETV6-NTRK1 fusion

Question 8

Dedifferentiated liposarcoma

Answer 8

MDM2 amplification

Question 9

Desmoplastic small round cell tumour

Answer 9

EWSR1-WT1 fusion

Question 10

Epithelioid sarcoma

Answer 10

Inactivation of INI1

Question 11

Ewings sarcoma/PNET

Answer 11

EWSR1-FLI1 and EWSR1-ERG fusion

Question 12

GCT of tendon sheath

Answer 12

CSF1 fusions

Question 13

Inflammatory myofibroblastic tumour

Answer 13

ALK fusions

Question 14

Lipoblastoma

Answer 14

PLAG1 rearrangements

Question 15

Myxoid/round cell liposarcoma

Answer 15

FUS-DDIT3 gene fusion

Question 16

Synovial sarcoma

Answer 16

SSX18-SSX1

Question 17

Nodular fasciitis

Answer 17

USP6

Question 18

Low grade fibromyxoid sarcoma

Answer 18

FUS gene translocations

Question 19

Sclerosing epithelioid fibrosarcoma

Answer 19

FUS gene translocations (FUS-CREB3L2)

Question 20

Primary ABC

Answer 20

USP6

Question 21

Pleomorphic adenoma

Answer 21

PLAG1

Question 22

Mucoepidermoid Ca

Answer 22

MAML2

Question 23

Adenoid Cystic Carcinoma

Answer 23

MYB

Question 24

Mammary Analogue Secretory Ca

Answer 24

ETV6-NTRK3