Wednesday, November 16, 2011 (Last Updated: 11/17/2011)
WEDNESDAY, Nov. 16 (HealthDay News) -- Genetic testing can be integrated into the management plan of retinoblastoma (RB) using a multidisciplinary approach, according to a study published in the November issue of the Archives of Ophthalmology.
Shweta U. Dhar, M.D., from Baylor College of Medicine in Houston, and colleagues investigated the role of genetic testing in management of patients with RB, using data from an eight year period. A cohort comprising 81 children diagnosed with RB, including 34 with bilateral and 47 with unilateral RB, and nine children with a positive family history of RB, was evaluated by a multidisciplinary team, including pediatric oncologists, an ophthalmologist, an ophthalmic pathologist, a geneticist, and genetic counselors.
The investigators found that genetic testing was accomplished in 63 percent of 81 patients, with an equivalent rate of testing in bilateral and unilateral cases. Peripheral blood samples identified an RB1 mutation in five of 30 patients with unilateral disease. The occurrence of sporadic RB was confirmed through mutation analysis in seven of 30 patients. Genetic testing revealed six positive and 42 negative individuals for the familial mutation among 48 at-risk family members belonging to 21 families.
"Our study emphasizes that genetics can be incorporated into the management plan of all retinoblastoma patients using a team approach to ensure timely evaluations and appropriate counseling," the authors write.
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