Somatic mutations in isocitrate dehydrogenase1 (IDH1) gene1-3 are common in Ollier disease and in several neoplasms including cholangiocarcinoma. We report the case of a woman with Ollier disease with chondrosarcomas and an anaplastic astrocytoma.… Click to show full abstract
Somatic mutations in isocitrate dehydrogenase1 (IDH1) gene1-3 are common in Ollier disease and in several neoplasms including cholangiocarcinoma. We report the case of a woman with Ollier disease with chondrosarcomas and an anaplastic astrocytoma. A mutation in IDH1 was found causing R132H at the protein level in both tumors. At the age of 40, the patient presented an acute abdominal pain.
               
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