During the 2017 annual meeting of the American Society of Retina Specialists (ASRS), Carol Shields, MD, discussed findings that show abnormalities in chromosomes 3, 6 and 8 are strong predictors of patient prognosis in uveal melanoma.
The study, which was published in Ophthalmology, was a team effort among 4 Philadelphia-based institutions: Wills Eye Hospital, Jefferson University, University of Pennsylvania and the Wistar Institute.
Following genetic analysis of 1,059 patients, abnormalities in chromosome 3 were linked to a 4-fold greater risk for metastatic disease. If chromosomes 3, 6 and 8 were all mutated, however, the odds of metastatic disease was an alarming 123-fold higher.
“This is profound. And this is personalized prognosis,” Dr. Shields said.
Within the cohort, 60% of subjects harbored chromosomal mutations. Clinical features of these patients included ciliary body tumor, increased distance from the optic nerve and foveola, and greater tumor diameter and thickness.
Conversely, small tumors were associated with a substantially reduced mutational profile and also correlated with better systemic prognosis.
Despite the benefit gained from identifying cytogenic abnormalities early in the course of disease, Dr. Shields cautioned that genetic testing may not be suitable for all patients.
“Some express depression, anxiety and regret, as shown by the Cleveland Clinic study, when they get their results,“ she said.