Age at diagnosis to discriminate those patients for whom constitutional DNA sequencing is appropriate in sporadic unilateral retinoblastoma

Eur J Cancer. 1998 Nov;34(12):1919-21. doi: 10.1016/s0959-8049(98)00254-8.


RB1 gene constitutional mutations were studied using 'exon-by-exon' sequencing in a series of 17 patients with sporadic unilateral retinoblastomas. Constitutional de novo germline mutations were detected in 4 patients. The age at diagnosis of retinoblastoma in all these cases was lower (mean 10.8 months; range 5-18) than in cases in which constitutional mutations were not found (mean 31.7 months; range 19-42). These results strongly indicate that age at retinoblastoma diagnosis may be a major factor for discriminating patients for whom a search for RB1 gene constitutional mutations could be justifiable in sporadic unilateral retinoblastomas.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child, Preschool
  • DNA, Complementary / genetics
  • Exons
  • Female
  • Genes, Retinoblastoma / genetics*
  • Germ-Line Mutation*
  • Humans
  • Male
  • Retinal Neoplasms / genetics*
  • Retinoblastoma / genetics*
  • Sequence Analysis, DNA


  • DNA, Complementary