title: [Glioblastoma multiforme as a manifestation of Turcot syndrome].
abstract: Turcot's syndrome, clinically characterized by the coincident occurrence of primary tumors of the colon and the central nervous system, can genetically be divided into two syndromes: familial adenomatous polyposis (FAP) and hereditary nonpolyposis colon carcinoma (HNPCC). In the present case, a 60-year-old patient with glioblastoma multiforme and a history of hereditary malignomas is described as an example of a HNPCC-associated Turcot's syndrome. New molecular biological methods and results give deeper insight into clinical syndromes, and the better understanding improves diagnostics, therapy, and outcome estimations, even in rare diseases. In the present case, a new germinal mutation could be identified.
authors.affiliation: Neurologische Universitätsklinik Mannheim, Ruprecht-Karls-Universität Heidelberg, Theodor-Kutzer-Ufer 1-3, 68135 Mannheim.
authors.forename: E
authors.initials: E
authors.lastname: Grips
authors.forename: N
authors.initials: N
authors.lastname: Wentzensen
authors.forename: C
authors.initials: C
authors.lastname: Sutter
authors.forename: O
authors.initials: O
authors.lastname: Sedlaczek
authors.forename: J
authors.initials: J
authors.lastname: Gebert
authors.forename: R
authors.initials: R
authors.lastname: Weigel
authors.forename: A
authors.initials: A
authors.lastname: Schwartz
authors.forename: M
authors.initials: M
authors.lastname: von Knebel-Doeberitz
authors.forename: M
authors.initials: M
authors.lastname: Hennerici
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D020137:Base Pair Mismatch; D001932:Brain Neoplasms / Q000175:diagnosis* / Q000235:genetics; D002352:Carrier Proteins; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005909:Glioblastoma / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins; D010375:Pedigree; D013577:Syndrome; D013702:Temporal Lobe
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1