Mutation profile of primary subungual melanomas in Caucasians.

SMAD4 acral melanoma melanoma nail apparatus melanoma subungual melanoma

Journal

Oncotarget
ISSN: 1949-2553
Titre abrégé: Oncotarget
Pays: United States
ID NLM: 101532965

Informations de publication

Date de publication:
23 Jun 2020
Historique:
received: 28 04 2020
accepted: 01 06 2020
entrez: 9 7 2020
pubmed: 9 7 2020
medline: 9 7 2020
Statut: epublish

Résumé

Specific genomic profile of cutaneous melanomas is related to UVR exposure, which exerts biological and therapeutic impact. Subungual melanoma (SUM) is an exceedingly rare disease; therefore, it is not well characterized. SUM pathogenesis is not related to UVR induced DNA damage and expected to differ from other melanoma subtypes. Our study aimed to define the mutation profile of SUM in Caucasians. Next-generation sequencing-based genomic analysis was used to identify frequently mutated loci in 50 cancer-related genes in 31 SUM primary tumors. The most abundant mutations in SUM were found in Our findings confirmed a high frequency of

Sections du résumé

BACKGROUND BACKGROUND
Specific genomic profile of cutaneous melanomas is related to UVR exposure, which exerts biological and therapeutic impact. Subungual melanoma (SUM) is an exceedingly rare disease; therefore, it is not well characterized. SUM pathogenesis is not related to UVR induced DNA damage and expected to differ from other melanoma subtypes. Our study aimed to define the mutation profile of SUM in Caucasians.
MATERIALS AND METHODS METHODS
Next-generation sequencing-based genomic analysis was used to identify frequently mutated loci in 50 cancer-related genes in 31 SUM primary tumors.
RESULTS RESULTS
The most abundant mutations in SUM were found in
CONCLUSIONS CONCLUSIONS
Our findings confirmed a high frequency of

Identifiants

pubmed: 32637031
doi: 10.18632/oncotarget.27642
pii: 27642
pmc: PMC7321700
doi:

Types de publication

Journal Article

Langues

eng

Pagination

2404-2413

Déclaration de conflit d'intérêts

CONFLICTS OF INTEREST Declared. Rutkowski has received honoraria for lectures and Advisory Baords from MSD, BMS, Novartis, Pierre Fabre, Blueprint Medicines and Pfizer outside the scope of this study.

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Auteurs

Aneta Borkowska (A)

Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Anna Szumera-Ciećkiewicz (A)

Department of Pathology and Laboratory Medicine, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
Diagnostic Hematology Department, Institute of Hematology and Transfusion Medicine, Warsaw, Poland.

Mateusz Spałek (M)

Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Paweł Teterycz (P)

Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Anna Czarnecka (A)

Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
Department of Experimental Pharmacology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.

Artur Kowalik (A)

Department of Molecular Diagnostics, Holy Cross Cancer Centre, Kielce, Poland.
Division of Medical Biology, Institute of Biology, Jan Kochanowski University, Kielce, Poland.

Piotr Rutkowski (P)

Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Classifications MeSH