Association between BRAF gene mutation status and clinical-morphological features of cutaneous melanoma
https://doi.org/10.1234/XXXX-XXXX-2016-6-19-24
Abstract
Skin melanoma - a malignant disease of the person with a high risk of metastasis. In countries with a predominantly white population of melanoma among the top ten most socially important categories of tumors, both in terms of morbidity and mortality. Estimation of some morphological characteristics of tumors is essential in determining the prognosis of the disease and the formation of high-risk groups in patients with melanoma. The aim of this study was to determine the association between the mutational status of BRAF gene, and clinical and morphological features of the skin melanoma patients of the South of Russia. Molecular genetic study of exon 15 of BRAF performed direct sequencing method of Sanger and by RT-PCR in 100 patients with a Russian South morphologically confirmed diagnosis of skin melanoma. It is found that the presence of mutations in the BRAF gene was significantly associated with an increased level of infestation by Clark. Also, there was a statistically significant increase in the frequency of tumor ulceration by 54% in patients with the presence of activating mutations V600. It has been found that tumors with activating mutations in the BRAF gene were more frequent in areas of skin exposed to periodic solar insolation (trunk). Tumors without mutations in the BRAF gene prevailed on the areas of skin with chronic sun exposure (head and neck). The overall frequency of somatic symptoms V600 mutations in the BRAF gene was 57% (57 of 100 patients). In this study the gene in BRAF have been identified mutations three options with different frequencies of occurrence: p.V600E (88%), p.V600K (10%) and K601> E (2%). In patients younger than 50 years, the frequency of occurrence V600 mutations was significantly higher than in the group of patients older than 50. Also, for patients younger than 50 years has been characterized by the absence of mutations V600K and a higher incidence of V600E mutation (1.7 times).
About the Authors
O. I. Kit
Rostov Research Institute of Oncology
Russian Federation
Russian Federation
D. I. Vodolazhsky
Rostov Research Institute of Oncology
Russian Federation
Russian Federation
I. Yu. Efimova
Rostov Research Institute of Oncology
Russian Federation
Russian Federation
E. Yu. Zlatnik
Rostov Research Institute of Oncology
Russian Federation
Russian Federation
S. S. Kochuev
Rostov Research Institute of Oncology
Russian Federation
Russian Federation
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Review
For citations:
Kit O.I., Vodolazhsky D.I., Efimova I.Yu., Zlatnik E.Yu., Kochuev S.S. Association between BRAF gene mutation status and clinical-morphological features of cutaneous melanoma. Medical Genetics. 2016;15(6):19-24. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-6-19-24
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