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Ocular Melanoma


 

Ocular Melanoma

 

Ocular melanoma is a form of melanoma in which cancer cells from the inner pigmented layer (known as the uvea) inside the eye. The tumor is also called ocular or intraocular melanoma. This tumor is different from tumor arising from the clear membrane covering the eye bulb called conjunctiva (conjunctival melanoma).

The uvea consists of three parts: the iris (the colored area of the eye, with the pupil at its center); the ciliary body (a ring of tissue behind the iris that makes intraocular fluid); and the choroid (a layer of blood vessels that bring oxygen and nutrients to the eye).

Uveal melanoma forms from a pigment cells that help determine eye color. These cells are in the iris, ciliary body and choroid. Risk factors for ocular melanoma include advancing age, having a fair complexing, and certain pigmentation conditions like having an ocular nevus or "freckle," skin pigmentations such as atypical mole syndromg, or increased pigmentation around the eye (oculodermalmelanocytosis). Most often, ocular melanoma has no warning symptoms early on. However, it can be detected with a dilated eye examination. Signs of ocular melanoma can include blurred vision, flashes, floaters, headache, or a dark spot on the eye.

 

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.

  • The OSUCCC - James is one of six centers worldwide for the NIH Cancer Genome Atlas (TCGA) Project for UM. Dr. Cebulla is the local principal investigator. Ohio State has participated as a tissue source site, in the clinical working group and in the writing group for the major marker paper. Participating faculty include Cebulla, Abdel-Rahman, Pilarski and Lynn Schoenfield, MD.

  • Ohio State is a co-investigator for a multicenter adjuvant clinical trial for high-risk uveal melanoma (grants.cov 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 UM comes from Abdel-Rahman's work. (PMID: 20164465)

  • Ohio State researchers identified genetic and pathologic factors associated with long vs. short survival with UM metasisis, or spread. (PMID: 22569040)

Other Studies and Information:

  • 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 melanoma, which is the most frequent and youngest presenting cancer (age 16). Other tumors include cutaneous melanoma, atypical Spitz nevi, basal cell carcinoma, mesothelioma, renal cell carcinoma, and others. Our group will be starting a registry for these patients. (PMID: 27748099, PMID: 27718540, PMID: 26748926, PMID: 26096145, PMID: 25687217, PMID: 24697775, PMID: 24243779, PMID: 21941004 (original ref))

  • Active uveal melanoma genetics discovery program

    • Our multidisciplinary group has developed the largest cohort of familial uveal melanoma patients in the world. There are 117 families reported in the literature; we have 32 families in our cohort. Our work identified an increased incidence of BAP1 mutation in familial UM (22% compared with 1-2% in unselected UM).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.”

    • Helped identify that variations in HERC2 and other genes that control eye color—as 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 any UV-blocking functions. (PMID: 27499155)