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The molecular profile of mucosal melanoma

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@article{a58a76e067a04b3eb059dbe08f5a7715,
title = "The molecular profile of mucosal melanoma",
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.",
author = "Mikkelsen, {Lauge Hjorth} and Emil Maag and Andersen, {Mette Klarskov} and Mogens Kruh{\o}ffer and Ann-Cathrine Larsen and Melchior, {Linea Cecilie} and Toft, {Peter Bjerre} and {von Buchwald}, Christian and Karin Wadt and Steffen Heegaard",
year = "2020",
month = dec,
doi = "10.1097/CMR.0000000000000686",
language = "English",
volume = "30",
pages = "533--542",
journal = "Melanoma Research",
issn = "0960-8931",
publisher = "Lippincott Williams & Wilkins",
number = "6",

}

RIS

TY - JOUR

T1 - The molecular profile of mucosal melanoma

AU - Mikkelsen, Lauge Hjorth

AU - Maag, Emil

AU - Andersen, Mette Klarskov

AU - Kruhøffer, Mogens

AU - Larsen, Ann-Cathrine

AU - Melchior, Linea Cecilie

AU - Toft, Peter Bjerre

AU - von Buchwald, Christian

AU - Wadt, Karin

AU - Heegaard, Steffen

PY - 2020/12

Y1 - 2020/12

N2 - 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.

AB - 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.

U2 - 10.1097/CMR.0000000000000686

DO - 10.1097/CMR.0000000000000686

M3 - Journal article

C2 - 33156594

VL - 30

SP - 533

EP - 542

JO - Melanoma Research

JF - Melanoma Research

SN - 0960-8931

IS - 6

ER -

ID: 61214710