Isocitrate dehydrogenase mutation is frequently observed in giant cell tumor of bone.
Bottom Line: No available treatment is definitively effective in curing GCTB, especially in surgically unresectable cases.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.DNA direct sequencing and subcloning identified IDH mutations of GCTB as IDH2-R172S (16 of 20; 80%).
Affiliation: Department of Regional Innovation, Tohoku University Graduate School of Medicine, Sendai, Japan.Show MeSH
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Mentions: We carried out immunohistochemistry against GCTB using a multispecific antimutated IDH1/2 mAb, MsMab-1. The characteristics of the GCTB patients are presented in Table1. Typical staining patterns are shown in Figure1. Both multinucleated osteoclast-like giant cells and mesenchymal fibroblast-like stromal cells were diffusely stained by MsMab-1 (Fig.1a,b). In contrast, weak and focal staining of mesenchymal fibroblast-like stromal cells was observed in other samples (Table1). Because MsMab-1 stained multinucleated giant cells in foreign-body granulomas (Fig. S1), multinucleated osteoclast-like giant cells in GCTB might be non-specifically stained by MsMab-1 (Fig.1).
Affiliation: Department of Regional Innovation, Tohoku University Graduate School of Medicine, Sendai, Japan.