Homozygosity of Chromosome 13 in Retinoblastoma

• Published in: The New England journal of medicine Vol. 310; no. 9; pp. 550 - 553
• Main Authors: Dryja, Thaddeus P, Cavenee, Webster, White, Raymond, Rapaport, Joyce M, Petersen, Robert, Albert, Daniel M, Bruns, Gail A. P
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 01.03.1984
• Subjects: Alleles; Biological and medical sciences; Cancer; Carboxylesterase; Carboxylic Ester Hydrolases - genetics; Cell culture; Child, Preschool; Chromosome 13; Chromosome Mapping; Chromosomes; Chromosomes, Human, 13-15; Cloning; Deoxyribonucleic acid; DNA; DNA - analysis; Eye Neoplasms - genetics; Family medical history; Female; Genetic counseling; Homozygote; Humans; Infant; Male; Medical sciences; Mutation; Ophthalmology; Patients; Retina; Retinoblastoma; Retinoblastoma - genetics; Tumor cells; Tumorigenesis; Tumors; Tumors and pseudotumors of the eye, orbit, eyelid, lacrimal apparatus; Human; Eye disease; D13-Chromosome; Retina; Tumor; Retinoblastoma; Homozygozity
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM198403013100902

We studied the frequency of chromosome 13 homozygosity in tumor tissue obtained directly from eyes harboring retinoblastomas. The data indicate that approximately half of all retinoblastomas are homozygous for large portions of 13q, that the homozygosity occurs in vivo and not as an event secondary to culture of the tumor cells, that chromosome 13 homozygosity is not correlated with the degree of histopathologic differentiation of the tumor, and that the homozygosity occurs in both sporadic and hereditary retinoblastomas. The development of chromosome 13 homozygosity may represent a fundamental event in the oncogenesis of a considerable number of retinoblastomas. This finding may have implications for the genetic counseling of patients with hereditary retinoblastoma. It may also be important in understanding the mechanism of oncogenesis of other tumors, especially hereditary tumors. (N Engl J Med 1984; 310:550–3.) RETINOBLASTOMA is a malignant tumor arising in the eyes of newborns and young children. Approximately 10 per cent of patients with retinoblastoma have a family history of the disease, and another 30 per cent have multifocal disease and a negative family history. These two groups, or approximately 40 per cent of patients with retinoblastoma, are capable of transmitting the disease to their offspring. 1 This hereditary tendency is governed by a locus or loci on the long arm of chromosome 13 within band 13q14. 2 We studied eight patients with retinoblastoma and examined tumors obtained directly from their eyes. In these samples, . . .