title: Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.
abstract: We describe the case of a patient with transcobalamin II deficiency, hypogammaglobulinemia, absent corpus callosum, and mental retardation who presented at an early age with colorectal cancer and multifocal anaplastic astrocytoma. He was found to have a possible germline mutation of the PMS2 gene, as evidenced by absent protein expression in both normal and tumor tissues. His parents were found to be carriers of a nonsense mutation of the PMS2 gene.
authors.affiliation: The Preston Robert Tisch Brain Tumor Center at Duke, Duke University Medical Center, Durham, NC 27710, USA. gurur002@mc.duke.edu
authors.forename: Sridharan
authors.initials: S
authors.lastname: Gururangan
authors.forename: Wendy
authors.initials: W
authors.lastname: Frankel
authors.forename: Russell
authors.initials: R
authors.lastname: Broaddus
authors.forename: Mark
authors.initials: M
authors.lastname: Clendenning
authors.forename: Leigha
authors.initials: L
authors.lastname: Senter
authors.forename: Marie
authors.initials: M
authors.lastname: McDonald
authors.forename: James
authors.initials: J
authors.lastname: Eastwood
authors.forename: David
authors.initials: D
authors.lastname: Reardon
authors.forename: James
authors.initials: J
authors.lastname: Vredenburgh
authors.forename: Jennifer
authors.initials: J
authors.lastname: Quinn
authors.forename: Henry S
authors.initials: HS
authors.lastname: Friedman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001254:Astrocytoma / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003106:Colon / Q000473:pathology; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000473:pathology; D003337:Corpus Callosum / Q000473:pathology; D004252:DNA Mutational Analysis; D045643:DNA Repair Enzymes / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008297:Male; D000070976:Mismatch Repair Endonuclease PMS2; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D014155:Transcobalamins / Q000172:deficiency
chemical_list: D004268:DNA-Binding Proteins; D014155:Transcobalamins; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D045643:DNA Repair Enzymes