Ependymomas in Two Sisters and a Maternal Male Cousin with Mosaicism with Monosomy 22 in Tumour

Abstract

A family with two sisters and their mother’s male cousin had ependymomas. Of note is the fact that chromosome analysis on the tumour of the younger sister showed two cell lines, one a normal female line, the other with monosomy of chromosome 22.

Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter–22q11.2

“…Absence of disease in earlier generations has also been documented for other (sub)ependymoma families (Honan et al, 1987;Savard and Gilchrist, 1989). These family data suggest multifactorial inheritance in which ependymoma development is determined by two or more loci.…”

“…Honan et al (1987) reported on a family of 11 siblings, of when five developed brain tumours: three had a subependymoma, one an ependymoma and one a brain tumour of unknown patholog y. In another famil y, two sisters and their mothe r's male cousin all developed an ependymoma (Savard and Gilchrist, 1989). One of the sisters had monosomy 22 in the tumou r. Ryken et al (1994) presented in their study a father and son, who both developed a subependymoma.…”

Treatment of ependymomas. Clinical and non-clinical factors influencing prognosis: a review

“…52 Cytogenetic evidence for a chrom osom e 22 tum our suppressor gene in ependym om a was found by W erem owicz et al 53 N ijssen et al 54 reported a fam ily with anaplastic ependym om as. T hey found evidence of loss of chrom osom e 22 in tum our cells, which was also found by Savard et al, 55 Rogatto et al, 56 and Ransom et al 57 Slavc et al 58 concluded that a locus distinct from the locus of the N F 2-gene on chrom osom e 22 m ight be responsible for tum our genesis. G enetically, ependym om as m ay be considered as belonging to the group of low-grade gliom as.…”

Infant brain tumors: a neuropathologic population-based institutional reappraisal

“…The cousin's tumor was not available for review. Notably, these 3 "ependymomas" were previously reported [19].…”