Giant cell tumor of bone: updated molecular pathogenesis and tumor biology

GCTB-related clonal aberrations occur in a background of epigenetic histone modifications (especially, the G34 W mutation of H3F3A gene) that induce cytogenetic abnormalities. Clonal aberrations are closely linked to the aggressiveness of GCTB. The "neoplastic" mononuclear stromal cells in GCTB express fundamental RANKLs and various chemokines and cytokines associated with monocyte recruitment and "reactive" multinucleated giant cells (osteoclastogenesis). The reciprocal and orchestrated actions between mononuclear stromal cells and multinucleated giant cells helps in the understanding of the molecular pathogenesis and tumor biology of GCTB.

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