Abstract
Melanoma of the ocular region (ocular melanoma) comprises about 5% of all patients with melanoma and covers posterior uveal melanoma, iris melanoma, and conjunctival melanoma. The risk of metastasis is much higher in patients with ocular melanoma compared to a primary melanoma of the skin. The subtypes of ocular melanoma have distinct genetic features, which should be taken into consideration when making clinical decisions. Most relevant for current practice is the absence of BRAF mutations in posterior uveal melanoma, although present in some iris melanomas and conjunctival melanomas. In this review, we discuss the genetic biomarkers of the subtypes of ocular melanoma and their impacts on the clinical care of these patients.
Highlights
The discovery of drugs targeting the mitogen-activated protein kinase (MAPK) pathway constitutes a major advancement in the treatment of patients with metastatic cutaneous melanoma harboring a somatic mutation in the BRAF gene on chromosome 7
As the iris color changes and a tumor can be noticed by the patient, iris melanoma is often diagnosed at an earlier stage compared to posterior Uveal melanoma (UM)
Strong prognostic genetic biomarkers predicting the development of metastasis, including chromosomal aberrations, DNA mutations, and RNA profiles, are available in primary posterior UM
Summary
The discovery of drugs targeting the mitogen-activated protein kinase (MAPK) pathway constitutes a major advancement in the treatment of patients with metastatic cutaneous melanoma harboring a somatic mutation in the BRAF gene on chromosome 7. Together with the emergence of immune checkpoint inhibitors [4,5], the prospects of patients with metastatic cutaneous melanoma are highly improved. Not all these advancements can be applied directly to patients with non-cutaneous melanoma, i.e., of ocular or mucosal origin. The risk to develop metastasis for patients with OcM is much higher compared to patients with a primary cutaneous melanoma and can be more than 50% in high-risk tumors of the posterior uvea [6,7,8]. All originating in the ocular region, posterior UM, iris melanoma, and conjunctival melanoma have distinct genetic features and should be regarded as different disease subsets. We will discuss the basics and genetic biomarkers of all subtypes of OcM for the practicing medical oncologist, with a clear focus on mutations that can serve as diagnostic, prognostic, or predictive biomarkers in the clinic
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