As part of the Collaborative Ocular Oncology Group (COOG), Texas Retina’s Timothy Fuller, MD, recently participated in a multi-center clinical research cohort study to determine if the results of an additional cell examination (cytopathology) change how accurately the 15-gene expression profiling (15-GEP) and Preferentially Expressed Antigen in Melanoma (PRAME) assay (15-GEP/PRAME) test predicts the future behavior of uveal melanoma, a rare and aggressive eye cancer. The results were recently published in JAMA Ophthalmology.

Working to Advance Uveal Melanoma Care and Outcomes

Although rare, uveal melanoma is the most common primary cancer of the eye. It can be aggressive and metastasize (spread to other parts of the body), especially the liver. Patients with certain high-risk genetic or clinical characteristics are more likely to develop metastases. To assess this risk, physicians perform a fine-needle aspiration biopsy of the tumor at the time of treatment and conduct genetic testing to better evaluate the likelihood of metastatic spread.

The 15-GEP test looks at the activity of 15 genes in the tumor to help predict the risk of metastasis. PRAME is a gene that can be active in melanoma cells, and previous research by COOG helped establish that adding a test for PRAME expression aided in identifying small tumors that were undergoing transformation from low risk (Class 1) to high risk (Class 2). The combination 15-GEP/PRAME testing allows physicians to tailor their surveillance imaging of patients determined to be at higher risk, increasing the potential for earlier detection and treatment. Additionally, clinical trials investigating adjuvant therapies to reduce the risk of metastasis are starting to become available for patients at high risk.

This latest cohort study of 1,537 patients aimed to evaluate whether sending an additional tumor sample for cytopathology evaluation influenced the results or prognostic accuracy of the 15-GEP/PRAME assay. It found that metastatic rates were similar whether patients were assessed using both 15-GEP/PRAME risk classification and cytopathology or 15-GEP/PRAME alone.

“These findings suggest that the 15-GEP/PRAME test is a reliable tool for predicting metastatic risk and guiding surveillance in patients with uveal melanoma, even without cytopathologic confirmation,” says Dr. Fuller. “This is especially important for us to know because in some cases, obtaining additional cytopathology specimens may expose the patient to added risk, which may be unnecessary, or if a lesion is very thin, it may not be technically feasible to obtain sufficient specimen. As a group, we remain committed to participating in studies like this that are advancing the care of patients with uveal melanoma and other eye cancers through precision diagnostic, prognostic and therapeutic breakthroughs.”

About the Collaborative Ocular Oncology Group

Texas Retina has been involved in ocular melanoma research for more than 40 years, serving as an active member of COOG, an organization of ocular and medical oncologists throughout North America who are specialized in the treatment of patients with intraocular cancers and currently focused on uveal melanoma. The COOG comprises more than 25 leading academic and private ocular oncology centers of excellence and has been continually funded by the National Cancer Institute for over a decade.