Bascom Palmer Eye Institute ophthalmologist J. William Harbour, M.D., has identified a new genetic marker for determining the virulence of ocular melanomas in a groundbreaking study published online January 13 in the prestigious journal Nature Genetics.
“Our research team discovered that the RNA splicing factor SF3B1 is mutated at a very specific location in some ocular melanomas, and this mutation indicates the likelihood that an ocular melanoma will metastasize and spread to other parts of the body, a far more deadly condition than when the cancer cells remain localized in the eye,” said Harbour, professor of ophthalmology, Vice Chairman for Translational Research at Bascom Palmer, and Director of the Ocular Oncology Service.… read more
In the November/December edition of Retina Today, retina specialist Thomas Aaberg Jr. describes the importance of personalized medicine and prognostic testing for patients with uveal melanoma. He explains that recent advances in the field have led to more than 40 active clinical trials testing ways to treat and delay metastatic disease. However, taking advantage of these and future opportunities may require genetic testing of the primary tumor. This presents a significant issue since there is rarely any tumor tissue left for subsequent evaluation after diagnosis and treatment.… read more
Patients Undergoing Genetic Test for Uveal Melanoma Will Have Option to Store Remaining Tissue for Future Use
Castle Biosciences News Release 9/30/13 – Castle Biosciences Inc. announced today the availability of a tumor tissue repository for patients whose tumors are being tested with the Company’s gene test for uveal, or ocular, melanoma.… read more
In his first few weeks as head of the melanoma group at Memorial Sloan-Kettering Cancer Center seven years ago, a young man walked into Dr. Gary Schwartz’s office with a rare form of the skin cancer that affects the eye.
“It was horrible. He died of metastatic disease. He was only 24.… read more
In the online journal PLOS Currents: Evidence on Genomic Tests, the DecisionDx-UM molecular test was cited as the most accurate prognostic factor for individualizing care for uveal melanoma patients. “… the DecisionDx-UM gene expression profile test is a stand-alone platform which requires no other information for maximal prognostic accuracy and which circumvents many of the drawbacks of chromosomal methods…”
DecisionDx-UM groups patients into high- and low-risk categories and is being used to better determine follow-up care.… read more