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Cytogenetic abnormalities correlated with clinical features of uveal melanoma

Issue: September 10, 2017

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BOSTON — It takes teamwork to manage uveal melanoma, Carol L. Shields, MD, told colleagues at the American Society of Retina Specialists meeting,

Citing 8-year experience with personalized prognosis of uveal melanoma based on genetic profile in 1,059 patients, recently published in Ophthalmology, Shields said she and coworkers found the strongest predictor of patient prognosis depends on chromosomal status, particularly chromosomes 3, 6 and 8.

“We found that if a patient has an abnormality in chromosome 3, they have a four-times greater risk for metastatic disease,” she said. “If chromosomes 3, 6 and 8 are all mutated, there is a 123-times greater risk for metastatic disease. This is profound,” she said.

The analysis of cytogenetic features was a cooperative effort among four Philadelphia-based institutions: Wills Eye Hospital, Jefferson University, University of Pennsylvania and the Wistar Institute.

“Mutations in chromosomes 3 and 8 are deleterious. They worsen prognosis. Mutations in chromosome 6 may be protective, but not always,” she said.

Of clinical features that could be correlated with cytogenetic abnormalities, Shields said, “We found the significant features that correlated with any mutation in chromosome 3, 6 or 8 included ciliary body location, greater distance from the optic nerve and from the foveola, greater tumor diameter and greater thickness.”

Greater tumor size correlates with increasing mutational profile, she said. As well, older age, melanocytosis, ciliary body location, greater tumor diameter and greater thickness all correlated with greater risk for chromosomes 3 and 8 mutations. – by Patricia Nale, ELS

References:

Shields CL. Correlation of cytogenetic abnormalities with clinical features of uveal melanoma in 1,059 patients. Presented at: American Society of Retina Specialists 35th Annual Meeting, Aug. 11-15, 2017; Boston.

Shields CL, et al. Ophthalmology. 2017;doi:10.1016/j.ophtha.2017.04.003.

Disclosure: Shields reports no relevant financial interest.