Mesenchymal chondrosarcoma diagnosed on FISH for HEY1-NCOA2 fusion gene

Kunihiko Moriya, Saori Katayama, Masaei Onuma, Takeshi Rikiishi, Masami Hosaka, Mika Watanabe, Tadashi Hasegawa, Yoji Sasahara, Shigeo Kure

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17 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)e55-e57
JournalPediatrics International
Issue number5
Publication statusPublished - 2014 Oct 1


  • HEY1-NCOA2 fusion gene
  • fluorescence in situ hybridization
  • mesenchymal chondrosarcoma


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