Glioblastoma multiforme as a manifestation of Turcot syndrome

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...

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Veröffentlicht in:Nervenarzt 2002-02, Vol.73 (2), p.177
Hauptverfasser: Grips, E, Wentzensen, N, Sutter, C, Sedlaczek, O, Gebert, J, Weigel, R, Schwartz, A, von Knebel-Doeberitz, M, Hennerici, M
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container_start_page 177
container_title Nervenarzt
container_volume 73
creator Grips, E
Wentzensen, N
Sutter, C
Sedlaczek, O
Gebert, J
Weigel, R
Schwartz, A
von Knebel-Doeberitz, M
Hennerici, M
description 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.
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subjects Adaptor Proteins, Signal Transducing
Base Pair Mismatch
Brain Neoplasms - diagnosis
Brain Neoplasms - genetics
Carrier Proteins
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
Female
Glioblastoma - diagnosis
Glioblastoma - genetics
Humans
Microsatellite Repeats - genetics
Middle Aged
MutL Protein Homolog 1
Neoplasm Proteins - genetics
Nuclear Proteins
Pedigree
Syndrome
Temporal Lobe
title Glioblastoma multiforme as a manifestation of Turcot syndrome
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