title: A family with spinal anaplastic ependymoma: evidence of loss of chromosome 22q in tumor.
abstract: Familial ependymal tumors are a very rare disease, the pathogenesis of which is unknown. Previous studies indicate an involvement of tumor suppressor genes localized within chromosomal region 22q, whereas details are still unclear. Here we report a non-neurofibromatosis type-2 (non-NF2) Japanese family in which two of the four members are affected with cervical spinal cord ependymoma, and one of the four is affected with schwannoma. Loss of heterozygosity (LOH) studies were carried out searching for common allelic loss at chromosomal region 22q11.2-qtel in two of the affected patients. Our findings support a prediction for existence of a tumor suppressor gene on chromosome 22 especially related to the tumorigenesis of familial ependymal tumors.
authors.affiliation: Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Yokota
authors.forename: Takayuki
authors.initials: T
authors.lastname: Tachizawa
authors.forename: Koichi
authors.initials: K
authors.lastname: Fukino
authors.forename: Akira
authors.initials: A
authors.lastname: Teramoto
authors.forename: Jun
authors.initials: J
authors.lastname: Kouno
authors.forename: Koshi
authors.initials: K
authors.lastname: Matsumoto
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Emi
mesh_terms: D000328:Adult; D002892:Chromosomes, Human, Pair 22; D004806:Ependymoma / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016515:Genes, Neurofibromatosis 2; D018095:Germ-Line Mutation; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D013125:Spinal Neoplasms / Q000235:genetics*