title: Anaplastic oligoastrocytoma in Turcot syndrome.
abstract: 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.
authors.affiliation: Department of Neurology, Yale University School of Medicine, 333 Cedar Street, TMP412, New Haven, CT, 06510, USA. joachim.baehring@yale.edu.|Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA. joachim.baehring@yale.edu.
authors.forename: Joachim
authors.initials: J
authors.lastname: Baehring
authors.affiliation: Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Pei
authors.initials: P
authors.lastname: Hui
authors.affiliation: Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Joseph
authors.initials: J
authors.lastname: Piepmeier
authors.affiliation: Department of Pathology, Cedars Sinai Medical Center, Los Angeles, CA, USA.
authors.forename: Serguei I
authors.initials: SI
authors.lastname: Bannykh
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics / Q000378:metabolism; D000251:Adenosine Triphosphatases / Q000235:genetics / Q000378:metabolism; D000368:Aged; D001254:Astrocytoma / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D045643:DNA Repair Enzymes / Q000235:genetics / Q000378:metabolism; D004273:DNA, Neoplasm / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D007124:Immunoenzyme Techniques; D008279:Magnetic Resonance Imaging; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; C497172:MSH2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein; D045643:DNA Repair Enzymes