The molecular profile of mucosal melanoma
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Standard
The molecular profile of mucosal melanoma. / Mikkelsen, Lauge Hjorth; Maag, Emil; Andersen, Mette Klarskov; Kruhøffer, Mogens; Larsen, Ann Cathrine; Melchior, Linea Cecilie; Toft, Peter Bjerre; von Buchwald, Christian; Wadt, Karin; Heegaard, Steffen.
I: Melanoma Research, Bind 30, Nr. 6, 2020, s. 533-542.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
APA
Vancouver
Author
Bibtex
}
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
Y1 - 2020
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
AN - SCOPUS:85095802573
VL - 30
SP - 533
EP - 542
JO - Melanoma Research
JF - Melanoma Research
SN - 0960-8931
IS - 6
ER -
ID: 258378054