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Vol 53(2019) N 4 p. 580-585; DOI 10.1134/S0026893319040022 Full Text

I.S. Abramov1, M.A. Emelyanova1, O.O. Ryabaya2, G.S. Krasnov1, A.S. Zasedatelev1, T.V. Nasedkina1*

Somatic Mutations Associated with Metastasis in Acral Melanoma

1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991 Russia
2Blokhin National Medical Research Center of Oncology, Ministry of Health of the Russian Federation, Moscow, 115478 Russia

*nased@biochip.ru
Received - 2018-11-30; Revised - 2018-12-10; Accepted - 2018-12-10

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.

acral melanoma, metastasis, massive parallel sequencing, somatic mutations



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