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(Lekanne Deprez et aI., 1994).
Table 1.
Interphase cytogenetic analysis of tumor of patient D
Number of spots per nucleus
Tissue Probes 0 2
fresh tumor p221l :2.1 6 73 21
cos 58BI2 8 76 16
cos 50BII 6 79 15
blood control* p221l :2.1 7 IO 83
cos 58BI2 8 13 79
*Cultured lymphocytes from blood of an unrelated subject.
Discussion
The histology and immunohistochemistry, intraventricular location, age of onset, and
identical neuroradiological patterns indicate that the tumors in all four patients are similar,
and of ependymal origin. While they are not typical ependymomas, they lack the major
criteria for ependymoblastomas. Considering age of onset, location, morphology and
immunohistochemistry, we designate these tumors as anaplastic ependymomas. Familial
ependymal tumors are very rare, and to our knowledge 9 families have been reported. These
include three families with 2 or more ependymal tumors (Tijssen et aI., 1982; Savard and
Gilchrist, 1989), and 5 ependymal tumors associated with glioma, plexus papilloma and
medulloblastoma (Tijssen et aI., 1982; Sato et aI., 1984). While coincidence may account for
part of these concurrences, the occurrence of 4 affected sons in a single generation, born
from 2 healthy brothers, strongly suggests the involvement of a genetic predisposing
mutation.
DNA and interphase cytogenetics of the tumor of patient D showed loss of (part) of
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