Chromosomal abnormalities in human retinoblastoma. A review

In part because of an association between the tumor and the constitutional chromosome 13q deletion syndrome and the finding of 13q deletions or monosomy 13 in retinoblastoma cells from individuals with normal constitutional karyotypes, chromosome 13q is postulated to contain a gene responsible for tumorigenesis in retinoblastoma. A review of the cytogenetics of retinoblastoma (incorporating an analysis of five previously unpublished cases and 77 cases from the literature) revealed recurrent abnormalities (in addition to those involving number 13, 21% of cases) that included: additional copies of 1q material (44%), isochromosome (6p) (45%), monosomy 16 (18%), marker 1p+ (13%), and homogeneously staining regions and double minutes (9%). Possible roles for these chromosome abnormalities in tumor development are discussed.