Moriya Kunihiko, Katayama Saori, Onuma Masaei, Rikiishi Takeshi, Hosaka Masami, Watanabe Mika, Hasegawa Tadashi, Sasahara Yoji, Kure Shigeo
Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi.
Pediatr Int. 2014 Oct;56(5):e55-7. doi: 10.1111/ped.12407.
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.
间叶性软骨肉瘤（MC）是一种极其罕见的软骨肉瘤亚型，其具有小圆形细胞肉瘤并伴有局灶性软骨分化，通常具有血管外皮瘤样血管模式。非软骨成分通常占主导，此类病变可能会与其他小圆形细胞肿瘤混淆。最近，在间叶性软骨肉瘤中鉴定出一种肿瘤特异性的HEY1-NCOA2融合基因。在此，我们报告一例9岁男孩的病例，通过荧光原位杂交（FISH）检测组织切片中近50%的肿瘤细胞存在HEY1-NCOA2融合信号，该男孩被诊断为间叶性软骨肉瘤。通过这种方式，该肿瘤被明确诊断为间叶性软骨肉瘤。该病例表明，FISH检测HEY1-NCOA2融合基因对间叶性软骨肉瘤具有诊断价值。
