Baehring Joachim, Hui Pei, Piepmeier Joseph, Bannykh Serguei I
Department of Neurology, Yale University School of Medicine, 333 Cedar Street, TMP412, New Haven, CT, 06510, USA.
Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.
J Neurooncol. 2009 Nov;95(2):293-298. doi: 10.1007/s11060-009-9928-y. Epub 2009 Jun 4.
Turcot syndrome (TS), a rare variant of hereditary non-polyposis colorectal cancer (HNPCC), is characterized by familial clustering of cancer of the large bowel, extracolonic body sites and brain. It is caused by germline mutations in genes encoding for components of the DNA mismatch repair system. We report a 72 year old woman with anaplastic oligoastrocytoma in the setting of TS. Careful analysis of tumor DNA is required to exclude the chance occurrence of a brain tumor in HNPCC kindreds and increase our understanding of the pathogenesis of the disease. Our case adds to the handful of cases published with detailed molecular data previously.
