Ocular melanoma, known as uveal melanoma, is a rare form of cancer that affects five in one million people. Despite its name, it isn’t caused by exposure to the sun, the way skin cancer is and it represents five percent of the melanomas that are diagnosed each year. It causes vision loss, blindness and can spread to the brain.
Despite it being a rare of cancer, there have been groups of people with this disease in North Carolina and Alabama. (See blog entry Folks with Ocular Melanoma Cluster on Social Media.) People in the Alabama group in all went to Auburn University. The people in the North Carolina group live in Huntersville, near Charlotte. Most live or lived near the town’s high school. Recently, the soil was tested in that area and no chemical contamination linked to ocular melanoma were found. People in the area decided to do more testing of the soil by taking deeper soil samples and possibly taking blood samples of those with the disease. A father of one of the people in that town who had ocular melanoma and later died of the disease was once a proponent of environmental testing, currently supports genetic testing. Kenny Colbert, the father of Kenan Koll who died at age 28, said “We need to start at ground level zero and see what do these people have in common.”
It isn’t just people in North Carolina who want to learn more about ocular melanoma. Researchers are looking for ways to develop treatments for this disease. Researchers at Thomas Jefferson University in Philadelphia were awarded a $50,000 fellowship from the Ocular Melanoma Foundation (OMF) to develop therapeutics that target the metabolism of the cancer cell.
While therapies that target cancer cells have shown promise for various types of cancer, such as skin cancer, they don’t work with ocular melanoma. Also, the metabolism of ocular cancer cells hasn’t been studied much. So, the scientists at Jefferson wanted to change that since understanding the features of cancer cells can lead to therapeutic options. Anna Han, PhD, a post-doctoral fellow in the Uveal Melanoma Working Group at Jefferson found that ocular melanoma cells have increased enzyme levels compared with normal cells. Also, 80 percent of ocular melanoma cases are associated with a loss of the BRCA-1 associated protein 1 (BAP1) and the mutations of the BAP1 are involved in the metabolism of ocular melanoma cells.
The scientists plan to do two things with their research:
1.) Define the specific cellular features of ocular melanoma that can be utilized as a therapeutic target.
2.) Identify the metabolic functions of the BAP1 mutations in ocular melanoma.
For the first item, the group will look at the role the mutation of the G-protein coupled receptor pathway genes of GNAQ and GNA11 along with the cancer cell signaling pathway has on ocular melanoma cell growth. For the second item, the group will compare BAP1-deficient and BAP1-re-expressed cell lines. They will also incorporate RNA-sequencing and the study of the processes of the cell metabolism, as well as the molecular data of the cell to identify the role of BAP1 in ocular melanoma.
All of this shows that rare doesn’t mean that it doesn’t have an effect on people. As a result, advocacy on behalf of those with ocular melanoma and research to learn more about this disease continues.