Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

The molecular profile of mucosal melanoma

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Global microRNA profiling of metastatic conjunctival melanoma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftMelanoma Research
Vol/bind30
Udgave nummer6
Sider (fra-til)533-542
Antal sider10
ISSN0960-8931
DOI
StatusUdgivet - dec. 2020

ID: 61214710