Recurrent Sporadic Bilateral Retinoblastoma in a Child with 13q Deletion Syndrome

Abstract

13q syndrome is a chromosomal abnormality in which there is a pathognomic deletion of the genetic material on the long arm (q) of chromosome 13. Phenotypes of this syndrome are variable depending on the location of the deleted segment. The main manifestations of the syndrome include mental retardation, craniofacial dysmorphism, and increased susceptibility to tumors. We report a unique case of recurrent sporadic bilateral retinoblastoma (Rb) in a fouryear-old boy carrying 13q (q12q14) interstitial deletion, which was treated successfully via enucleation and chemotherapy. Where most patients with familial Rb receive a single mutated Rb1 allele as the 'first hit', a small number of patients encounter interstitial deletion of the long arm of chromosome 13, resulting in the loss of the tumor suppressor Rb1 gene and presenting as sporadic cases.