title: Distribution of p53 alterations in a case of gliomatosis cerebri.
abstract: Gliomatosis cerebri (GC) is a rare neuroepithelial tumor characterized by diffuse infiltration of large parts of the brain. The origin of GC is unknown, and the molecular alterations underlying this tumor have not been determined. Because mutations in the p53 tumor-suppressor gene are frequent in common gliomas, we investigated the distribution of p53 alterations by immunohistochemistry and direct sequencing in a GC case with a disease involving both hemispheres and the basal ganglia. Nuclear accumulation of p53 protein was detected in a single region with features of a high-grade glioma. In the remaining 10 regions, corresponding to low-grade gliomas, no p53 accumulation was seen. In 1 low-grade tumor sample, a pathogenic splice site mutation was detected. These findings suggest that p53 alterations occur in GC, but are no prerequisite of malignant progression. The distribution of p53 alterations demonstrates the existence of topographically different clones in 1 patient.
authors.affiliation: Department of Neuropathology, Otto von Guericke University, Magdeburg, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Mawrin
authors.forename: Hartmut
authors.initials: H
authors.lastname: Lins
authors.forename: Elmar
authors.initials: E
authors.lastname: Kirches
authors.forename: Hans-Ulrich
authors.initials: HU
authors.lastname: Schildhaus
authors.forename: Cordula
authors.initials: C
authors.lastname: Scherlach
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Kanakis
authors.forename: Knut
authors.initials: K
authors.lastname: Dietzmann
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002467:Cell Nucleus / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D017809:Fatal Outcome; D016158:Genes, p53; D006801:Humans; D007124:Immunoenzyme Techniques; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018302:Neoplasms, Neuroepithelial / Q000235:genetics* / Q000378:metabolism / Q000556:secondary; D017354:Point Mutation; D016159:Tumor Suppressor Protein p53 / Q000235:genetics* / Q000378:metabolism
chemical_list: D004273:DNA, Neoplasm; D016159:Tumor Suppressor Protein p53