Ocular melanoma is a form of melanoma in which cancer cells from the inner pigmented layer (known as the uvea) form inside the eye. The tumor is also called ocular or intraocular melanoma. This tumor is different from tumor arising from the ocular surface called the conjunctiva (conjunctival melanoma). Ocular melanoma can be fatal and researchers at OSU are devoted to ending deaths from this cancer.
Ocular melanoma research at Ohio State
The Ohio State University Comprehensive Cancer Center - James Cancer Hospital and Solove Research Institute (OSUCCC – James) has a strong ocular melanoma genetics discovery program.
*Discovery of the BAP1 Tumor Predisposition Syndrome (OMIM 603089)(OSU faculty: Abdel-Rahman, Pilarski, Cebulla, Davidorf)
This autosomal dominant syndrome caused by germline mutation of BAP1 was simultaneously discovered by our group at OSU and two other groups. It causes uveal (ocular) melanoma, which is the most frequent and youngest presenting cancer (age 16). Other tumors include cutaneous melanoma, mesothelioma, renal cell carcinoma, atypical Spitz nevi, basal cell carcinoma, and others.
Interest in the new BAP1 syndrome has led to formation of the BIG Consortium – an international group of scientists and clinicians dedicated to learning and improving outcomes for patients with the BAP1 syndrome. Our group has developed screening guidelines for patients with the syndrome. Our group is starting a registry for these patients and offers care for patients with the BAP1 syndrome.
*The OSUCCC – James is one of six centers worldwide for the NIH Cancer Genome Atlas (TCGA) project for uveal melanoma. Dr. Cebulla led Ohio State’s participation as a tissue source site, and our group served on the clinical working group and writing group for the major uveal melanoma marker paper. Participating faculty include Drs. Cebulla, Abdel-Rahman, Pilarski, and Schoenfield.
*Ohio State is part of a multicenter adjuvant clinical trial for high-risk uveal melanoma (grants.gov NCT02223819, OSU 14129). Thomas Olencki, DO, is the local principal investigator for this trial, titled "Crizotinib in High-Risk Uveal Melanoma Following Definitive Therapy." The trial opened at Ohio State in September 2016. Preclinical data supporting this class of medication for uveal melanoma comes from Abdel-Rahman's work. (PMID: 20164465)
OSUCCC-James is a leader in the nation for offering clinical trials to patients with advanced uveal melanoma.
Other studies and information
*Active Uveal Melanoma Genetics Discovery Program
Our multidisciplinary group (Davidorf, Abdel-Rahman, Cebulla, Pilarski) has developed the largest cohort of familial uveal melanoma patients in the world. There are 117 families reported in the literature, and we have 32 families in our cohort. Our work identified an increased incidence of BAP1 mutation in familial uveal melanoma (22 percent compared with one to two percent in unselected uveal melanoma).This cohort is powerful for discovery of the genes that predispose to uveal melanoma and other cancers. (PMID: 27718540)
*NIH funding R21CA1919R43 Abdel-Rahman (PI) on “Hereditary Predisposition Syndromes in Uveal Melanoma.”
*Our group helped identify that variations in HERC2-- and other genes that control eye color—are risk alleles for uveal melanoma. The discovery has been recognized in the media. It is significant that the pigmentation differences may yield a direct risk for cancer, beyond their UV-blocking functions. (PMID: 27499155)
*Our group identified genetic and pathologic factors associated with long vs. short survival with uveal melanoma metasisis, or spread. (PMID: 22569040)