Hepatocellular adenoma with a double mutation HNF1A and IDH1 in a patient with Ollier disease

Somatic mutations in isocitrate dehydrogenase1 (IDH1) gene 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.