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Updated: Dec 1, 2025
A Robust Discovery Platform for the Identification of Novel Mediators of Melanoma Metastasis
Published on: March 8, 2022
The molecular profile of mucosal melanoma
Lauge Hjorth Mikkelsen1,2, Emil Maag3, Mette Klarskov Andersen4
1Eye Pathology Section, Department of Pathology.
Abstract:
Herein, we wanted to explore the molecular landscape of mucosal melanoma from different sites and identify potential molecular targets for future therapy. Mucosal melanomas (N = 40) from different sites (conjunctiva, sinonasal cavity, rectum, and vagina) were investigated. Targeted next-generation sequencing along with Nanostring gene expression profiling was performed. Genetically, conjunctival melanoma was characterized by BRAF-V600E (30%) and NF1 mutations (17%). Mucosal melanomas at nonsun-exposed sites harbored alterations in NRAS, KIT, NF1, along with atypical BRAF mutations. When comparing the gene expression profile of conjunctival melanoma and nonsun-exposed mucosal melanoma, 41 genes were found to be significantly deregulated. Programmed death-ligand 1 (PD-L1) presented a significant sixfold upregulation in conjunctival melanoma compared to the other mucosal melanomas. While melanomas of the sinonasal cavity, vagina, and rectum are molecularly similar, conjunctival melanoma is characterized by a higher frequency of BRAF-V600E mutations and differential expression of several genes involved in the immune response.
Insights
This study reveals distinct molecular profiles of mucosal melanomas. Conjunctival melanoma shows unique BRAF mutations and higher PD-L1 expression compared to other sites, suggesting targeted therapy potential.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Mucosal melanomas are rare cancers originating from pigment-producing cells in non-skin tissues.
- Understanding the molecular heterogeneity of mucosal melanomas is crucial for developing effective treatments.
Purpose of the Study:
- To investigate the molecular landscape of mucosal melanomas from various anatomical sites.
- To identify potential molecular targets for future therapeutic interventions.
Main Methods:
- Analysis of 40 mucosal melanomas from conjunctiva, sinonasal cavity, rectum, and vagina.
- Utilized targeted next-generation sequencing and Nanostring gene expression profiling.
Main Results:
- Conjunctival melanoma frequently exhibited BRAF-V600E (30%) and NF1 (17%) mutations.
- Non-sun-exposed mucosal melanomas showed alterations in NRAS, KIT, NF1, and atypical BRAF mutations.
- Significant gene expression differences were observed, with a sixfold upregulation of programmed death-ligand 1 (PD-L1) in conjunctival melanoma.
Conclusions:
- Conjunctival melanoma possesses a distinct molecular profile compared to mucosal melanomas at other sites.
- BRAF mutations and immune response gene expression, including PD-L1, are key differentiating factors.
- Findings support the exploration of site-specific molecular targets for mucosal melanoma therapy.
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