title: Complex cytogenetic abnormalities including telomeric associations and MEN1 mutation in a pediatric ependymoma.
abstract: Ependymomas are neuroectodermal tumors of the brain and spinal cord. Some recurrent cytogenetic aberrations have been reported in these tumors, including alterations involving chromosomes 22, 6, and 11. However, consistent molecular alterations have not been identified in ependymal tumors. We studied a recurrent ependymoma in a 3-year-old patient by standard cytogenetic and molecular analysis of TP53 and MEN1 genes. In the present case, we found many of the cytogenetic features previously described as being recurrent in ependymomas, including unstable telomeric alterations. Furthermore, we detected a novel acquired heterozygous mutation in the MEN1 gene. The chromosomal instability produced by the telomeric alterations and the mutation in the MEN1 gene could be important events in the tumorigenesis of ependymomas.
authors.affiliation: Departamento de Genética Humana, Programa de Patología Molecular, Centro Nacional de Investigaciones Oncológicas (CNIO), Instituto de Salud Carlos III, Ctra. Majadahonda-Pozuelo, Km. 2, 28220 Majadahonda, Madrid, Spain. murioste@cnio.es
authors.forename: M
authors.initials: M
authors.lastname: Urioste
authors.forename: A
authors.initials: A
authors.lastname: Martínez-Ramírez
authors.forename: J C
authors.initials: JC
authors.lastname: Cigudosa
authors.forename: I
authors.initials: I
authors.lastname: Colmenero
authors.forename: L
authors.initials: L
authors.lastname: Madero
authors.forename: M
authors.initials: M
authors.lastname: Robledo
authors.forename: B
authors.initials: B
authors.lastname: Martínez-Delgado
authors.forename: J
authors.initials: J
authors.lastname: Benítez
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000235:genetics; D004806:Ependymoma / Q000235:genetics*; D005260:Female; D016158:Genes, p53 / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D011518:Proto-Oncogene Proteins; D016615:Telomere / Q000235:genetics*
chemical_list: C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins