Genetics evaluations improve risk prediction in retinoblastoma patients

November 28, 2011

Incorporating genetics into the treatment plan of retinoblastoma patients improves risk prediction and ensures accurate evaluations.

Incorporating genetics into the treatment plan of retinoblastoma patients improves risk prediction and ensures accurate evaluations, claims a study in the Archives of Ophthalmology.

Dr Shweta U. Dhar et al., Department of Ophthalmology, The Methodist Hospital, Houston, Texas, USA, conducted a retrospective study on 90 retinoblastoma patient evaluations performed over 8 years. A multidisciplinary team was created from an ophthalmologist, paediatric oncologists, an ophthalmic pathologist, a geneticist and genetics counsellors.

Of the patients evaluated, 81 probands were discovered, including 34 bilateral and 47 unilateral. Nine of the total patients were assessed due to a positive family history of retinoblastoma.

In 51 out of 81 bilateral and unilateral patients genetic testing was successfully completed. An RB1 mutation was found in the peripheral blood samples of 5 out of 30 patients with unilateral disease. Sporadic retinoblastoma was identified in 7 out of 30 patients undergoing mutation analysis.

Genetic testing revealed that, out of 48 patient family members from 21 families, 42 tested negative for familial mutation and 6 tested positive. The results emphasized the value of genetic evaluation in the management plan for retinoblastoma patients.