Research Papers:

Mutation profile of primary subungual melanomas in Caucasians

Aneta Borkowska _, Anna Szumera-Ciećkiewicz, Mateusz Spałek, Paweł Teterycz, Anna Czarnecka, Artur Kowalik and Piotr Rutkowski

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Oncotarget. 2020; 11:2404-2413. https://doi.org/10.18632/oncotarget.27642

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Aneta Borkowska1, Anna Szumera-Ciećkiewicz2,3, Mateusz Spałek1, Paweł Teterycz1, Anna Czarnecka1,4, Artur Kowalik5,6 and Piotr Rutkowski1

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

2 Department of Pathology and Laboratory Medicine, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland

3 Diagnostic Hematology Department, Institute of Hematology and Transfusion Medicine, Warsaw, Poland

4 Department of Experimental Pharmacology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland

5 Department of Molecular Diagnostics, Holy Cross Cancer Centre, Kielce, Poland

6 Division of Medical Biology, Institute of Biology, Jan Kochanowski University, Kielce, Poland

Correspondence to:

Aneta Borkowska,email: [email protected]

Keywords: melanoma; acral melanoma; subungual melanoma; nail apparatus melanoma; SMAD4

Received: April 28, 2020     Accepted: June 01, 2020     Published: June 23, 2020


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: Next-generation sequencing-based genomic analysis was used to identify frequently mutated loci in 50 cancer-related genes in 31 SUM primary tumors.

Results: The most abundant mutations in SUM were found in KIT – in 13% of cases and NRAS – also in 13%, while BRAF - only in 3% of cases.

Conclusions: Our findings confirmed a high frequency of KIT and NRAS mutations in SUM, as well as a low incidence of BRAF mutations. We reported novel KRAS, CTNNB1, TP53, ERBB2, and SMAD4 mutations in SUM. Our findings provide new insights into the molecular pathogenesis of SUM.

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