Familial anaplastic ependymoma: evidence of loss of chromosome 22 in tumour cells.
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.
Nijssen
P C
PC
Department of Neurology, St Elisabeth Hospital, Tilburg, The Netherlands.
Deprez
R H
RH
Tijssen
C C
CC
Hagemeijer
A
A
Arnoldus
E P
EP
Teepen
J L
JL
Holl
R
R
Niermeyer
M F
MF
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