title: Familial anaplastic ependymoma: evidence of loss of chromosome 22 in tumour cells.
abstract: A family with anaplastic ependymomas, histologically verified in three cases and neuroradiologically suggested in a fourth, is presented. Two healthy brothers both had two affected sons. All four male patients were younger than 5 years at the time of diagnosis. Two boys died before the age of 3 years. Genotype analysis (with polymorphic DNA markers for chromosome 22 and interphase cytogenetic analysis) of one of the tumours showed a subpopulation of tumour cells with monosomy of (part of) chromosome 22. Non-neoplastic cells of this patient showed a normal karyotype. These findings give further evidence for the role of a tumour suppressor gene on chromosome 22 in the pathogenesis of familial ependymal tumours.
authors.affiliation: Department of Neurology, St Elisabeth Hospital, Tilburg, The Netherlands.
authors.forename: P C
authors.initials: PC
authors.lastname: Nijssen
authors.forename: R H
authors.initials: RH
authors.lastname: Deprez
authors.forename: C C
authors.initials: CC
authors.lastname: Tijssen
authors.forename: A
authors.initials: A
authors.lastname: Hagemeijer
authors.forename: E P
authors.initials: EP
authors.lastname: Arnoldus
authors.forename: J L
authors.initials: JL
authors.lastname: Teepen
authors.forename: R
authors.initials: R
authors.lastname: Holl
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeyer
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004806:Ependymoma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic