Abstract
The paper provides a clinical description and analysis of two melanoma cases with mutations in the BRAF and NRAS gene within one tumor. Until recently, it was believed that mutations in the BRAF and NRAS genes are exclusive and do not occur within the same tumor. Later it was revealed that these mutations can exist within one tumor, but this is still quite a rare phenomenon. Molecular genetic analysis of the tumor obtained from both patients showed a mutation in the 15 exon of the BRAF gene c.1799T>A (V600E) and exon 2 of the NRAS p.G13S gene (p.37 G>A). The expression level of non-mutant NRAS protein was different in both cases. In conclusion, so in one patient, despite the presence of a mutation in the NRAS gene, the level of expression of the non-mutant protein was absent, which can be related to possible posttranscriptional disorders in the regulation of gene expression.
Highlights
The patient has less than 5% mutant cells, ×400
Author informationAksenenko Mariya В., PhD, Assistant of Professor, Department of Pathological Physiology, KrasSMU n.a. prof. V.F. Voyno-Yasenetsky, Krasnoyarsk, Russian Federation. ORCID iD 0000-0001-7660-700X. Avershuk Anton S., PhD, Assistant of Professor, Department of Pathological Physiology, KrasSMU n.a. prof. V.F. Voyno-Yasenetsky, Krasnoyarsk, Russian Federation. ORCID ID 0000-0002-1284-6711. Ruksha Tatiana G., DM, Head of Department of Pathophysiology, KrasSMU n.a. prof. V.F. Voyno-Yasenetsky, Krasnoyarsk, Russian Federation. ORCID iD 0000-0001-81424283. (*) Aksenenko Mariya В., e-mail: aksenenko_mariya@ mail.ru
Summary
Сочетание мутаций генов BRAF и NRAS в пределах одной опухоли у пациентов с меланомой кожи. Что мутации в генах BRAF и NRAS являются взаимоисключающими и не встречаются в пределах одной опухоли. Определение мутации BRAF V600E в опухоли проводилось методом полимеразной цепной реакции в режиме реального времени, а во 2-м и 3-м экзоне гена NRAS – методом секвенирования по Сенгеру. Выявлены мутации в 15-м экзоне гена BRAF c.1799T>A (V600E) и во 2-м экзоне гена NRAS p.G13S Ключевые слова: меланома кожи, BRAF, NRAS, мутации. Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи. Для цитирования: Аксененко М.Б., Аверчук А.С., Рукша Т.Г.
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