Soft Tissue Translocations

Question 1

Pleomorphic (adult) rhabdomyosarcoma

Answer 1

complex array of copy number alterations and point mutations, often involving TP53

Question 2

Aneurysmal bone cyst

Answer 2

t(16;17) CDH11-USP6*

Question 3

Giant Cell Tumor of Bone

Answer 3

H3F3A G34W

Question 4

Sarcoma with BCOR Rearrangements

Answer 4

BCOR-CCNB3
BCOR-ITD

Question 5

Chondroblastoma

Answer 5

H3F3B K36M

Question 6

Perivascular epithelioid cell tumors (PEComas)

Answer 6

TSC1 (9q34) or TSC2 (16p13.3) alterations

Question 7

Desmoplastic small round cell tumor (DSRCT)

Answer 7

t(11;22) EWSR1-WT1

Question 8

mesenchymal chondrosarcoma

Answer 8

Chromosome 8 HEY1-NCOA2

Question 9

myxoid liposarcoma

Answer 9

t(12;16)(q13;p11.2) FUS-DDIT3

Question 10

dermatofibrosarcoma protuberans (DFSP)

Answer 10

t(17;22) COL1A1-PDGFB

Question 11

Inflammatory leiomyosarcoma

Answer 11

near haploid karyotype with sparing of chromosomes 5, 22, 18, 20 and 21

Question 12

Chondroid lipoma

Answer 12

t(11;16) C11orf95-MRTFB

Question 13

Ewing sarcoma translocation

Answer 13

t(11;22)(q24;q12), resulting in EWSR1-FLI1

Question 14

Myoepithelial tumor most common genetic alteration

Answer 14

EWSR1 is most commonly rearranged

Question 15

Clear cell sarcoma

Answer 15

t(12;22)(q13;q12) for EWSR1-ATF1

Question 16

Translocation in sclerosing epithelioid fibrosarcoma (SEF)

Answer 16

EWSR1-CREB3L1

Question 17

Gene in gastric adenocarcinoma and proximal polyposis (GAPPS) of the stomach

Answer 17

germline mutations in YY1 binding site of APC promoter

Question 18

Answer 18

Colchicine toxicity

Question 19

Thigh mass

Answer 19

myxoid liposarcoma

Question 20

YA thigh mass

Answer 20

Hibernoma

Question 21

Answer 21

Hemosiderotic fibrolipomatous tumor

Question 22

Abdominal mass

Answer 22

Calcifying fibrous tumor