Homozygosity of Chromosome 13 in Retinoblastoma

Thaddeus P. Dryja, Webster Cavenee, Raymond White, Joyce M. Rapaport, Robert Petersen, Daniel M. Albert, Gail A.P. Bruns

Research output: Contribution to journalArticlepeer-review

222 Scopus citations


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.).

Original languageEnglish (US)
Pages (from-to)550-553
Number of pages4
JournalNew England Journal of Medicine
Issue number9
StatePublished - Mar 1 1984
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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