PMID- 25336010 OWN - NLM STAT- MEDLINE DCOM- 20161012 LR - 20161230 IS - 1442-200X (Electronic) IS - 1328-8067 (Linking) VI - 56 IP - 5 DP - 2014 Oct TI - Mesenchymal chondrosarcoma diagnosed on FISH for HEY1-NCOA2 fusion gene. PG - e55-7 LID - 10.1111/ped.12407 [doi] AB - 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. CI - (c) 2014 Japan Pediatric Society. FAU - Moriya, Kunihiko AU - Moriya K AD - Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi. FAU - Katayama, Saori AU - Katayama S FAU - Onuma, Masaei AU - Onuma M FAU - Rikiishi, Takeshi AU - Rikiishi T FAU - Hosaka, Masami AU - Hosaka M FAU - Watanabe, Mika AU - Watanabe M FAU - Hasegawa, Tadashi AU - Hasegawa T FAU - Sasahara, Yoji AU - Sasahara Y FAU - Kure, Shigeo AU - Kure S LA - eng PT - Case Reports PT - Journal Article PL - Australia TA - Pediatr Int JT - Pediatrics international : official journal of the Japan Pediatric Society JID - 100886002 RN - 0 (Basic Helix-Loop-Helix Transcription Factors) RN - 0 (Cell Cycle Proteins) RN - 0 (HEY1 protein, human) RN - 0 (NCOA2 protein, human) RN - 0 (Nuclear Receptor Coactivator 2) SB - IM MH - Basic Helix-Loop-Helix Transcription Factors/*genetics MH - Bone Neoplasms/*diagnosis/*genetics MH - Cell Cycle Proteins/*genetics MH - Child MH - Chondrosarcoma, Mesenchymal/*diagnosis/*genetics MH - *Gene Fusion MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Male MH - Nuclear Receptor Coactivator 2/*genetics MH - *Tibia OTO - NOTNLM OT - HEY1-NCOA2 fusion gene OT - fluorescence in situ hybridization OT - mesenchymal chondrosarcoma EDAT- 2014/10/23 06:00 MHDA- 2016/10/13 06:00 CRDT- 2014/10/23 06:00 PHST- 2013/08/02 00:00 [received] PHST- 2014/02/24 00:00 [revised] PHST- 2014/04/10 00:00 [accepted] PHST- 2014/10/23 06:00 [entrez] PHST- 2014/10/23 06:00 [pubmed] PHST- 2016/10/13 06:00 [medline] AID - 10.1111/ped.12407 [doi] PST - ppublish SO - Pediatr Int. 2014 Oct;56(5):e55-7. doi: 10.1111/ped.12407.