title: Mesenchymal chondrosarcoma diagnosed on FISH for HEY1-NCOA2 fusion gene.
abstract: Mesenchymal chondrosarcoma (MC) is an extremely rare subtype of chondrosarcoma that has a small round-cell sarcoma with focal cartilaginous differentiation, often with a pericytomatous vascular pattern. The non-cartilaginous components are usually dominant, and such lesions might be confused with other small round-cell tumors. Recently, a tumor-specific HEY1-NCOA2 fusion gene was identified in MC. Here we report the case of a 9-year-old boy who was diagnosed with MC by detection of HEY1-NCOA2 fusion signals in almost 50% of tumor cells in tissue sections on fluorescence in situ hybridization (FISH). In this way, the tumor was definitively diagnosed as MC. This case suggests that the detection of the HEY1-NCOA2 fusion gene on FISH is of diagnostic value for MC.
authors.affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi.
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Moriya
authors.forename: Saori
authors.initials: S
authors.lastname: Katayama
authors.forename: Masaei
authors.initials: M
authors.lastname: Onuma
authors.forename: Takeshi
authors.initials: T
authors.lastname: Rikiishi
authors.forename: Masami
authors.initials: M
authors.lastname: Hosaka
authors.forename: Mika
authors.initials: M
authors.lastname: Watanabe
authors.forename: Tadashi
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Yoji
authors.initials: Y
authors.lastname: Sasahara
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D001859:Bone Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D018211:Chondrosarcoma, Mesenchymal / Q000175:diagnosis* / Q000235:genetics*; D050939:Gene Fusion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D051958:Nuclear Receptor Coactivator 2 / Q000235:genetics*; D013977:Tibia
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D018797:Cell Cycle Proteins; D051958:Nuclear Receptor Coactivator 2; C485631:HEY1 protein, human; C498001:NCOA2 protein, human
keywords: HEY1-NCOA2 fusion gene; fluorescence in situ hybridization; mesenchymal chondrosarcoma