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Familial anaplastic ependymoma: evidence of loss of chromosome 22
in tumor cells
PCG Nijssen*, RH ukanne Deprez$, CC Tijssen*, A Hagemeijer&, EPJ Arnoldus+, JUM
Teepen#, R Ho!l@, MF Niermeyer!
Departments of *Neurology, HNeuropatho]ogy, @Pediatrics, St Elisabeth Hospital, Tilburg; Departments of
$Pathology, &CeJl Biology and Genetics, !Clinical Genetics, Erasmus University, Rotterdam; + University Hospital
of Leiden
Abstract
A family is presented with anaplastic ependymomas, histologically verified in 3 cases,
and neuroradiologically suggested in a 4th case. Two healthy brothers both had 2
affected sons. All 4 male patients were younger than 5 years old at the time of diagnosis.
Two boys died before the age of 3 years. Genotype analysis (using polymorphic DNA
mal'kers for chromosome 22 and interphase cytogenetic analysis) of olle of the tumors,
showed a subpopulation of tumor cells with monosomy of (pm1 00 chromosome 22.
Nonneoplastic cells of this patient showed a normal l