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Mesenchymal chondrosarcoma diagnosed on FISH for HEY1‐NCOA 2 fusion gene
Author(s) -
Moriya Kunihiko,
Katayama Saori,
Onuma Masaei,
Rikiishi Takeshi,
Hosaka Masami,
Watanabe Mika,
Hasegawa Tadashi,
Sasahara Yoji,
Kure Shigeo
Publication year - 2014
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12407
Subject(s) - chondrosarcoma , medicine , fusion gene , cancer research , pathology , mesenchymal stem cell , fluorescence in situ hybridization , gene , biology , genetics , chromosome
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‐NCOA 2 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‐NCOA 2 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‐NCOA 2 fusion gene on FISH is of diagnostic value for MC .