Conjunctival Melanoma: Genetic and Epigenetic Insights of a Distinct Type of Melanoma.

Rossi Rossi,Pagliara Pagliara,Maiorano Maiorano,Schinzari Schinzari,Di Stefani Di Stefani,Blasi Blasi,Peris Peris,Bria Bria,Tortora Tortora

doi:10.3390/ijms20215447

Abstract

Conjunctival melanoma (CjM) is a rare, primary cancer of the ocular region. Genetic and epigenetic characteristics of conjunctival melanoma have not been completely elucidated yet. Conjunctival melanoma presents similarities with cutaneous melanoma, with substantial differences in the biological behavior. We reviewed the genetic and epigenetic insights of CjM involved in invasion and metastatic spread. CjM is commonly characterized by mutations of v-raf murine sarcoma viral oncogene homolog B1 (BRAF), neurofibromin 1 (NF1) and telomerase reverse transcriptase (TERT), high expression of mammalian target of rapamycin (mTOR) and heat shock protein 90 (HSP90), frequent phosphatase and tensin homolog (PTEN) loss and upregulation of specific miRNAs. These features should identify CjM as a distinct subset of melanoma with its own profile, which is more similar to cutaneous melanoma than mucosal melanoma and remarkably different from uveal melanoma.

Highlights

Conjunctival melanoma (CjM) constitutes 5% of all ocular melanomas
CjM can be preceded by conjunctival nevi, which develop into melanomas in
This review aims to elucidate in detail the genetic and epigenetic features of CjM involved in invasion and metastatic spread in order to identify potential therapeutic targets for this disease

Summary

Introduction

Conjunctival melanoma (CjM) constitutes 5% of all ocular melanomas. CjM may occur ‘de novo’ in about 19% of the cases [9,15,16]. It usually presents with pigmented lesions that are most commonly located on the bulbar conjunctiva (Figure 1) (92%) and, in over 60% of cases, it affects the temporal quadrants. CjM shows a five-year local recurrence rate from 26% to 61% [9,15,21,23,24]. Non-epibulbar lesions have the highest risk of local recurrence [14,15]. Tumors with a nodular growth pattern, recurrent lesions and ‘de novo’ CjM have the highest risk of metastatic spread [21,23]. CjM has a 10-year mortality rate of approximately 30% [3,5,6,8,15,22,27]

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