Genetics evaluations improve risk prediction in retinoblastoma patients

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.