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Ollier disease and Maffucci syndrome are characterized by enchondromas (benign, deforming cartilaginous tumors); spindle cell hemangiomas are also present in Maffucci syndrome. Two investigations have now associated mutations in the isocitrate dehydrogenase genes IDH1 and IDH2 with these syndromes.
Amary and colleagues identified the mutations in 90% of 68 cartilaginous tumors from 32 individuals with Ollier disease and 8 with Maffucci syndrome. Pansuriya and colleagues found the same mutations in 86% of cartilaginous tumors from Ollier and Maffucci patients and in 86% of spindle cell hemangiomas from Maffucci patients. Given the unilateral presentation of some enchondromas, the absence of family history, the intratumoral heterogeneity of mu…