New Method of Eye Cancer Testing Provides Opportunity for Precision Medicine Breakthrough

Precision medicine advances in eye cancer, in particular uveal melanoma, made possible through new testing modality

A new study out of Stanford Medicine may radically change the way uveal melanoma is likely to be diagnosed and monitored in the future.

Uveal melanoma is a rare type of eye cancer, with only about 2,500 new cases being identified annually. Uveal melanoma is an adult cancer and has about a 50% chance of metastasizing to other parts of the body, leading to potentially fatal consequences. There is currently no US Food and Drug Administration (FDA) approved treatment for uveal melanoma, and treatment normally involves radiation on or removal of the eye.

However, recent research at Stanford could pave the way for new precision medicine approaches in diagnosing retinal disease such as uveal melanoma, personalized treatments for the rare cancer, and new ways to manage patient care.  

Promising Testing for Uveal Melanoma

In the Stanford Medicine study, researchers explored a new way of evaluating the progression of uveal melanoma by biopsying the fluid inside the eye and examining the different proteins found in this fluid. This breakthrough is in its early days but has provided a promising advance for an untreatable cancer where safe and efficacious precision medicine-based treatments are needed.

Diagnosing uveal melanomas has presented a unique challenge for clinicians. The standard of care has been to surgically biopsy the tumor and to analyze the tissue sample that is acquired. This presents several potential risks to the patient including the possible development of retinal detachment, a condition that can lead to permanent blindness. A surgical biopsy can only be performed once, making it difficult to track the disease’s progression.

Vinit Mahajan, MD, PhD, studies uveal melanoma among other hard-to-treat eye diseases.
Vinit Mahajan, MD, PhD, studies uveal melanoma among other hard-to-treat eye diseases.

“We zeroed in on proteins in eye fluid near the tumor because they could give us a broad picture of what was happening in and around the tumor,” said Vinit Mahajan, MD, PhD, Associate Professor of Ophthalmology at the Byers Eye Institute at Stanford and co-author of the study, in an announcement by Stanford. “By casting a wide net, we gained insight into both common and rare molecular changes that could inform highly personalized medicine—something that could help care for rare and hard-to-treat eye diseases.”

Key Findings of Uveal Melanoma Liquid Biopsy Research

One of the key findings of the Stanford Medicine research using the liquid biopsy method was that evaluating these proteins better predicted the risk of metastasis of the cancer when compared to conventional evaluation methods. This study also allows for earlier detection of when the disease occurred and possibly when cancerous cells are eradicated.

This new method of testing has the potential to become the new standard of care. “We anticipate that fluid biopsies from the eye may supplement or replace the need for direct tumor biopsies by providing a potentially safer and more easily repeatable method to determine risk of metastasis in our patients,” said Prithvi Mruthyunjaya, MD, a co-author of the study and associate professor of ophthalmology at the Byers Eye Institute at Stanford, who was also quoted in Stanford’s announcement.

While this new method shows promise, Mahajan says that the research team intends to further validate the findings in other patients.

Patient-Specific Chemotherapy for Uveal Melanoma Next?

Ultimately, the Stanford Medicine research is already allowing for the developments of new, individualized treatments for uveal melanoma. “Accurately identifying signals that are released near the tumor can help guide accurate diagnosis, identify the disease at the earliest stage, and, most importantly, lead to customized treatments,” Mruthyunjaya explained. While discussing their findings, the research team announced that they are already developing clinical trials for patient-specific chemotherapy that can be used to treat uveal melanoma.

This new research will impact hospitals that provide services in ocular oncology and eye health. It also shows how precision medicine advances are focusing on new diagnostic technologies for eye cancer. As new tests are developed, ocular cancer testing will increasingly focus on providing information that allows for personalized treatments.

—Caleb Williams

Related Information:

Liquid biopsy proteomics of uveal melanoma reveals biomarkers associated with metastatic risk

Molecular clues could signal eye cancer survival odds

Prithvi Mruthyunjaya, MD

Vinit Mahajan, MD, PhD

Read Thursday’s Briefing