Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

The molecular profile of mucosal melanoma

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Global microRNA profiling of metastatic conjunctival melanoma

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Targeted ultrasound and fine-needle aspiration cytology for sentinel node diagnostics in early-stage melanoma: a validation study

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Prognostic and predictive value of YKL-40 in stage IIB-III melanoma

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Ultraviolet radiation drives mutations in a subset of mucosal melanomas

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Sequelae of Major Trauma Patients with Maxillofacial Fractures

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Impact of time to treatment initiation for patients with oral cavity squamous cell carcinoma: a population-based, retrospective study

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Incidence and survival of salivary gland cancer in children and young adults in Denmark: A nation-wide study for the period 1990-2015

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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.

Original languageEnglish
JournalMelanoma Research
Volume30
Issue number6
Pages (from-to)533-542
Number of pages10
ISSN0960-8931
DOIs
Publication statusPublished - Dec 2020

ID: 61214710