Isocitrate dehydrogenase mutation is frequently observed in giant cell tumor of bone

Cancer Science

Mika Kato Kaneko²  Xing Liu²  Hiroharu Oki²  Satoshi Ogasawara²  Takuro Nakamura²  Noriko Saidoh²  Yuta Tsujimoto²  Yuka Matsuyama⁴  Akira Uruno⁴  Masato Sugawara¹  Takashi Tsuchiya¹  Mitsunori Yamakawa³  Masayuki Yamamoto⁴  Michiaki Takagi¹ 

[1] Department of Orthopaedic Surgery, Yamagata University Faculty of Medicine, Yamagata, Japan;Department of Regional Innovation, Tohoku University Graduate School of Medicine, Sendai, Japan;Department of Diagnostic Pathology, Yamagata University Faculty of Medicine, Yamagata, Japan;Department of Medical Biochemistry, Tohoku University Graduate School of Medicine, Sendai, Japan

关键词: GCTB;    giant cell tumor of bone;    IDH mutations;    isocitrate dehydrogenase 2;    monoclonal antibody;   

DOI  :  10.1111/cas.12413

来源: Wiley

【 摘 要 】

Abstract

Giant cell tumors of bone (GCTB) are benign and locally destructive tumors that include osteoclast-type multinuclear giant cells. No available treatment is definitively effective in curing GCTB, especially in surgically unresectable cases. Isocitrate dehydrogenase (IDH) mutations have been reported not only in gliomas and acute myeloid leukemias, but also in cartilaginous tumors and osteosarcomas. However, IDH mutations in GCTB have not been investigated. The IDH mutations are remarkably specific to arginine 132 (R132) in IDH1 and arginine 172 (R172) or arginine 140 (R140) in IDH2; IDH1/2 mutations are known to convert α-ketoglutarate to oncometabolite R(-)-2-hydroxyglutarate. We recently reported that the most frequent IDH mutation in osteosarcomas is IDH2-R172S, which was detected by MsMab-1, a multispecific anti-IDH1/2 mAb. Herein, we newly report the IDH mutations in GCTB, which were stained by MsMab-1 in immunohistochemistry. DNA direct sequencing and subcloning identified IDH mutations of GCTB as IDH2-R172S (16 of 20; 80%). This is the first report to describe IDH mutations in GCTB, and MsMab-1 can be anticipated for use in immunohistochemical determination of IDH1/2 mutation-bearing GCTB.

【 授权许可】

CC BY-NC-ND   
© 2014 The Authors. Cancer Science published by Wiley Publishing Asia Pty Ltd on behalf of Japanese Cancer Association.

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