Screening for teh retinoblastoam gene – pro
Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb develops from cells that have cancer-predisposing variants in both copies of RB1. Rb may be unifocal or multifocal. About 60% of affected individuals have unilateral Rb with a mean age of diagnosis of 24 months; about 40% have bilateral Rb with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
The American Society of Clinical Oncologists identifies heritable retinoblastoma as a Group 1 disorder, i.e., a hereditary syndrome for which genetic testing is considered part of the standard management for at-risk family members [American Society of Clinical Oncology 2003]. It is appropriate to evaluate apparently asymptomatic at-risk relatives of an affected individual in order to identify as early as possible those who would benefit from eye examination by an experienced ophthalmologist and allow for early identification of a retinoblastoma.This means that if an RB1 gene mutation is identified in an affected relative, family screening is recommended. The American Cancer society recommends that children born to a parent with a history of retinoblastoma should be screened for this cancer starting shortly after birth because early detection of this cancer greatly improves the chance for successful treatment.
GeneReviews® [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK1452/
Dietmar R Lohmann, MD and Brenda L Gallie, MD.
https://www.cancer.org/cancer/retinoblastoma/causes-risks-prevention.html, Acessed 6/7/17
Screening Children at Risk for Retinoblastoma
Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists
Alison H. Skalet et al, Presented in part at: the International Society of Ocular Oncology meeting, March 2428, 2017, Sydney, Australia.Article in Press, http://www.aaojournal.org/article/S0161-6420(17)31784-0/fulltext, 2017