title: The impact of TP53 and RAS mutations on cerebellar glioblastomas.
abstract: Cerebellar glioblastoma (cGBM) is a rare, inadequately characterized disease, without detailed information on its molecular basis. This is the first report analyzing both TP53 and RAS alterations in cGBM. TP53 mutations were detected in more than half of the samples from our cohort, mainly in hotspot codons. There were no activating mutations in hotspot codons 12/13 and 61 of KRAS and HRAS genes in cGBM samples but we detected alterations in other parts of exons 2 and 3 of these genes, including premature induction of STOP codon. This mutation was present in 3 out of 5 patients. High incidence of RAS mutations, as well as significantly longer survival of cGBM patients compared to those with supratentorial GBM suggest that cGBM may have different mechanisms of occurrence. Our results suggest that inactivation of TP53 and RAS may play an important role in the progression of cerebellar GBM.
authors.affiliation: University of Belgrade, Institute for Biological Research "Sinisa Stankovic", Department of Neurobiology, Bulevar Despota Stefana 142, 11000 Belgrade, Serbia. Electronic address: vedrana.paunovic@ibiss.bg.ac.rs.
authors.forename: Vedrana P
authors.initials: VP
authors.lastname: Milinkovic
authors.affiliation: University of Belgrade, School of Medicine, Institute of Pathology, Doktora Subotica 1, 11000 Belgrade, Serbia.
authors.forename: Milica K
authors.initials: MK
authors.lastname: Skender Gazibara
authors.affiliation: University of Belgrade, School of Medicine, Institute of Pathology, Doktora Subotica 1, 11000 Belgrade, Serbia.
authors.forename: Emilija M
authors.initials: EM
authors.lastname: Manojlovic Gacic
authors.affiliation: University of Belgrade, School of Medicine, Institute of Epidemiology, Visegradska 26, 11000 Belgrade, Serbia.
authors.forename: Tatjana M
authors.initials: TM
authors.lastname: Gazibara
authors.affiliation: University of Belgrade, Institute for Biological Research "Sinisa Stankovic", Department of Neurobiology, Bulevar Despota Stefana 142, 11000 Belgrade, Serbia.
authors.forename: Nikola T
authors.initials: NT
authors.lastname: Tanic
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002528:Cerebellar Neoplasms / Q000175:diagnosis / Q000235:genetics*; D018388:Codon, Terminator; D005909:Glioblastoma / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D018631:ras Proteins / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; D016159:Tumor Suppressor Protein p53; C501009:HRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins
keywords: Cerebellar glioblastoma; Glioblastoma; Immunohistochemistry; RAS; p53