Non-Familial Retinoblastoma: Case Report

Jump To References Section

Authors

  • ,IN
  • ,IN
  • ,IN
  • ,IN
  • ,IN
  • ,IN

Keywords:

Non-Familial, Retinoblastoma, Sporadic.
Education and Research

Abstract

Retinoblastoma is a malignancy of the retina. It is most common intraocular tumor in children. Dominantly inherited disorder frequently found association with defect in RB1 gene. Approximately 40% of patients with retinoblastoma have inherited a germ-line mutation of the RB1 gene found 10% unilaterally while 60% are non-familial. Herewith we present 2 cases of non-familial, unilateral retinoblastoma.

Downloads

Published

2015-12-01

Issue

Section

Original Research Article

 

References

Nelson textbook of Pediatrics. 19th ed. Vol II. p. 1768-9.

Tucker T, Friedman JM. Pathogenesis of hereditary tumors: beyond the "two-hit” hypothesis. Clin Genet. 2002; 62(5):345-57.

Sippel KC, Fraioli RE, Smith GD, et al. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet. 1998; 62(3):610-9.

Murphree LA. Intraocular retinoblastoma: the case for a new group classification. Ophthalmol Clin North Am. 2005; 18(1):41-53.

Goodrich DW. The retinoblastoma tumor-suppressor gene, the exception that proves the rule. Oncogene. 2006; 25(38):5233-43.

Knudson AG Jr, Hethcote HW, Brown BW. Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma. ProcNatl Acad Sci U S A. 1975; 72(12):5116-20.

Smith JH, Murray TG, Fulton L, O'Brien JM. Siblings of retinoblastoma patients: are we underestimating their risk? Am J Ophthalmol. 2000; 129(3):396-8.

Munier FL, Wang MX, Spence A, et al. Pseudo low penetrance in retinoblastoma: fortuitous familial aggregation of sporadic cases caused by independently derived mutations in two large pedigrees. Arch Ophthalmol. 1993; 111(11):1507-11.