Uveal melanoma: epidemiology, pathophysiology, and treatment
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Abstract
Uveal melanoma (UM) is a rare and sometimes fatal malignancy of the uveal tract, which includes the iris, ciliary body and choroid. UM is the most common primary intraocular tumor in adults, primarily affecting the Caucasian population and patients between 50-70 years of age. The vast majority of UMs originate in the choroid (90%), while 6% and 4% originate in the ciliary body and iris respectfully. Half of patients diagnosed with UM develop distant metastases, with 90% of those metastases occurring in the liver. Interestingly, UM is characterized by a relatively small number of genetic aberrations, which is unique from many other forms of cancer. These genetic aberrations manifest as distinct cytogenetic profiles that reliably inform the prognostic classification of UM subtypes. Yet, to date, there are no successful treatments for metastatic UM, as it has proven to be resistant to conventional chemotherapy, targeted treatments and immune checkpoint inhibitors. As a result, UM remains an incredibly lethal disease, with a one-year survival rate of just 10 to 15% after the development of metastases. Therefore, the purpose of this thesis is to provide an overview of the epidemiology of UM, key molecular mechanisms underlying its pathogenesis and current and future treatment avenues for this disease. The goal is lend insight into the biological basis of UM and current obstacles preventing the development of effective treatments.