title: Atypical molecular background of glioblastoma and meningioma developed in a patient with Li-Fraumeni syndrome.
abstract: We observed three neoplasms with completely different histologies: malignant fibrous histiocytoma (MFH), atypical meningioma (AM), and glioblastoma (GB), developing in a patient with Li-Fraumeni syndrome. By using a combined molecular approach we performed molecular characterization of all three tumours. Data obtained showed an interesting molecular background of the AM and GB. AM showed TP53mutations and a 22q loss of heterozygosity (LOH). GB showed epidermal growth factor receptor (EGFR) amplification and TP53 mutations, whereas P16, PTEN, Rbwere intact in terms of LOH and/or multiplex PCR (polymerase chain reaction) analysis. Additionally, GB has a 1q LOH, which is an extremely rare alteration in glioblastomas. Identical 1q LOH was also observed in MFH.
authors.affiliation: Department of Molecular Pathology and Neurology, Chair of Oncology, Medical University of Lodz, Lodz, Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Rieske
authors.forename: Magdalena
authors.initials: M
authors.lastname: Zakrzewska
authors.forename: Wojciech
authors.initials: W
authors.lastname: Biernat
authors.forename: Jacek
authors.initials: J
authors.lastname: Bartkowiak
authors.forename: Arthur
authors.initials: A
authors.lastname: Zimmermann
authors.forename: Paweł Piotr
authors.initials: PP
authors.lastname: Liberski
mesh_terms: D000328:Adult; D001932:Brain Neoplasms / Q000235:genetics / Q000628:therapy; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004247:DNA / Q000032:analysis; D017809:Fatal Outcome; D005820:Genetic Testing; D018095:Germ-Line Mutation; D005909:Glioblastoma / Q000235:genetics* / Q000628:therapy; D018219:Histiocytoma, Benign Fibrous / Q000235:genetics* / Q000628:therapy; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000150:complications / Q000235:genetics* / Q000628:therapy; D019656:Loss of Heterozygosity; D008297:Male; D008579:Meningioma / Q000235:genetics* / Q000628:therapy; D018895:Microsatellite Repeats; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000628:therapy; D012878:Skin Neoplasms / Q000235:genetics / Q000628:therapy; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D016159:Tumor Suppressor Protein p53; D004247:DNA
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