Somatic Mutations Associated with Metastasis in Acral Melanoma
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Acral melanoma is one of the most aggressive and fast-growing forms of cutaneous melanoma and is characterized by a predominant location on the palms and feet. Primary tumors, metastases, and normal tissue samples from five acral melanoma patients were examined by massive parallel sequencing, focusing on the coding regions of 4100 genes involved in the origin and progression of hereditary and oncology diseases. Somatic mutations were found in genes related to cell division, proliferation, and apoptosis (BRAF, NRAS, VAV1, GATA1, and GCM2); cell adhesion (CTNND2 and ITGB4); angiogenesis (VEGFA); and the regulation of energy metabolism (BCS1L). Comparisons of target DNA sequences between morphologically normal and primary tumor tissues and between normal and metastatic tissues identified the candidate genes responsible for rapid metastasis in acral melanoma.
Keywords:acral melanoma metastasis massive parallel sequencing somatic mutations
This work was supported by the Russian Science Foundation (project no. 14-35-00107).
COMPLIANCE WITH ETHICAL STANDARDS
Conflict of interests. The authors declare that they have no conflict of interest.
Statement of compliance with standards of research involving humans as subjects. The study was approved by the Ethics Committee at the Blokhin National Medical Research Center of Oncology (Ministry of Health of the Russian Federation). All patients gave their written informed consent to their tissue samples being used for research purposes.
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