First Case Report of an Extraskeletal Myxoid Chondrosarcoma with a t(9;16)(q22;p11.2) Resulting in Fusion of FUS and NR4A3

2014-06-26 19:27:28

Cancer Genetics; 2014 June 26; DOI: 10.1016/j.cancergen.2014.06.024

Cory J. Broehma, Jin Wua, Rama R. Gullapallia, Therese Bocklage


Extraskeletal myxoid chondrosarcoma (EMC) is a rare neoplasm characterized by rearrangement of NR4A3. A t(9;22)(q22;q12), creating a fusion protein of EWSR1 and NR4A3, has been reported as a unique, recurring translocation in the majority of cases. Reported variant translocations have resulted in fusion of NR4A3 with three other genes: TAF15, TCF12, and TFG. We report a case of EMC in a 59-year-old man who presented with a six month history of an enlarging mass in the proximal right thigh. Karyotype of fresh tissue from tumor taken at incisional biopsy revealed a t(9;16)(q22;p11.2). There was no evidence of EWSR1 rearrangement by dual color break apart FISH. Dual color FISH probes revealed fusion of NR4A3 and FUS, a member of the TET family of genes which includes EWSR1 and TAF15. Break apart FISH probe confirmed rearrangement of FUS. These findings show a fusion product of FUS and NR4A3 may be an additional pathway to development of EMC.

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