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

Mika Kato Kaneko, Xing Liu, Hiroharu Oki, Satoshi Ogasawara, Takuro Nakamura, Noriko Saidoh, Yuta Tsujimoto, Yuka Matsuyama, Akira Uruno, Masato Sugawara, Takashi Tsuchiya, Mitsunori Yamakawa, Masayuki Yamamoto, Michiaki Takagi, Yukinari Kato

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27 Citations (Scopus)

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. This is the first report to describe IDH mutations in giant cell tumor of bone (GCTB), and MsMab-1 can be anticipated for use in immunohistochemical determination of IDH1/2 mutation-bearing GCTB.

Original languageEnglish
Pages (from-to)744-748
Number of pages5
JournalCancer science
Volume105
Issue number6
DOIs
Publication statusPublished - 2014 Jun

Keywords

  • GCTB
  • Giant cell tumor of bone
  • IDH mutations
  • Isocitrate dehydrogenase 2
  • Monoclonal antibody

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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  • Cite this

    Kato Kaneko, M., Liu, X., Oki, H., Ogasawara, S., Nakamura, T., Saidoh, N., Tsujimoto, Y., Matsuyama, Y., Uruno, A., Sugawara, M., Tsuchiya, T., Yamakawa, M., Yamamoto, M., Takagi, M., & Kato, Y. (2014). Isocitrate dehydrogenase mutation is frequently observed in giant cell tumor of bone. Cancer science, 105(6), 744-748. https://doi.org/10.1111/cas.12413