Conjunctival melanoma: New insights in tumour genetics and immunology, leading to new therapeutic options

Niels J. Brouwer, Robert M. Verdijk, Steffen Heegaard, Marina Marinkovic, Bita Esmaeli, Martine J. Jager*

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

27 Citations (Scopus)
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Recent developments in oncology have led to a better molecular and cellular understanding of cancer, and the introduction of novel therapies. Conjunctival melanoma (CoM) is a rare but potentially devastating disease. A better understanding of CoM, leading to the development of novel therapies, is urgently needed. CoM is characterized by mutations that have also been identified in cutaneous melanoma, e.g. in BRAF, NRAS and TERT. These mutations are distinct from the mutations found in uveal melanoma (UM), affecting genes such as GNAQ, GNA11, and BAP1. Targeted therapies that are successful in cutaneous melanoma may therefore be useful in CoM. A recent breakthrough in the treatment of patients with metastatic cutaneous melanoma was the development of immunotherapy. While immunotherapy is currently sparsely effective in intraocular tumours such as UM, the similarities between CoM and cutaneous melanoma (including in their immunological tumour micro environment) provide hope for the application of immunotherapy in CoM, and preliminary clinical data are indeed emerging to support this use. This review aims to provide a comprehensive overview of the current knowledge regarding CoM, with a focus on the genetic and immunologic understanding. We elaborate on the distinct position of CoM in contrast to other types of melanoma, and explain how new insights in the pathophysiology of this disease guide the development of new, personalized, treatments.

Original languageEnglish
Article number100971
JournalProgress in Retinal and Eye Research
Publication statusPublished - 12 Jan 2022

Bibliographical note

Funding Information:
This work was supported by the following foundations: Leiden University Medical Center (MD/PhD program grant, NJB), and European Commission (Horizon, 2020 grant number 667787 , NJB, MJJ).

Publisher Copyright:
© 2021


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