title: Extraskeletal myxoid chondrosarcoma with a t(9;16)(q22;p11.2) resulting in a NR4A3-FUS fusion.
abstract: 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 most 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 6-month history of an enlarging mass in the proximal right thigh. The karyotype of fresh tissue from tumor taken at incisional biopsy revealed a t(9;16)(q22;p11.2). There was no evidence of an EWSR1 rearrangement by dual-color break-apart fluorescence in situ hybridization (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 results confirmed rearrangement of FUS. These findings show that a fusion product of FUS and NR4A3 may be an additional pathway to development of EMC.
authors.affiliation: Department of Pathology, University of New Mexico School of Medicine, Albuquerque, NM, USA. Electronic address: cbroehm@salud.unm.edu.
authors.forename: Cory J
authors.initials: CJ
authors.lastname: Broehm
authors.affiliation: Department of Pathology, University of New Mexico School of Medicine, Albuquerque, NM, USA.
authors.forename: Jin
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Pathology, University of New Mexico School of Medicine, Albuquerque, NM, USA.
authors.forename: Rama R
authors.initials: RR
authors.lastname: Gullapalli
authors.affiliation: Department of Pathology, University of New Mexico School of Medicine, Albuquerque, NM, USA.
authors.forename: Thèrése
authors.initials: T
authors.lastname: Bocklage
mesh_terms: D002813:Chondrosarcoma / Q000235:genetics* / Q000473:pathology; D002885:Chromosomes, Human, Pair 16; D002899:Chromosomes, Human, Pair 9; D003582:Cytogenetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D018204:Neoplasms, Connective and Soft Tissue / Q000235:genetics* / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D034702:RNA-Binding Protein FUS / Q000235:genetics*; D011987:Receptors, Steroid / Q000235:genetics*; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; C490412:NR4A3 protein, human; D015514:Oncogene Proteins, Fusion; D034702:RNA-Binding Protein FUS; D011987:Receptors, Steroid; D011988:Receptors, Thyroid Hormone
keywords: 16p11.2; 9q22; Extraskeletal myxoid chondrosarcoma; FUS; NR4A3