Advances in Molecular OncologyAdvances in Molecular OncologyУспехи молекулярной онкологии2313-805X2413-3787Publishing House ABV Press37710.17650/2313-805X-2021-8-3-25-33REVIEW ARTICLESОБЗОРНЫЕ СТАТЬИThe role of mutations in NF1 gene in sporadic carcinogenesisРоль мутаций в гене NF1 в спорадическом канцерогенезеhttps://orcid.org/0000-0002-4091-382XMustafinR. N.МустафинР. Н.
Russian Federation

3 Lenin St., Ufa 450008

450008 Уфа, ул. Ленина, 3

Bashkir State Medical UniversityФГБОУ ВО «Башкирский государственный медицинский университет»1509202183253305112021Copyright ©; 2021, Mustafin R.N.Copyright ©; 2021, Мустафин Р.Н.2021Mustafin R.N.Мустафин Р.Н.https://creativecommons.org/licenses/by/4.0https://umo.abvpress.ru/jour/article/view/377

The review article presents data on somatic inactivation of NF1 gene as a cause of sporadic malignant neoplasms. The re- lationship between the features of specific tumors in neurofibromatosis type 1 and specific types of sporadic neoplasms, in which mutations in NF1 gene are found, are presented. Evidence for the role of somatic mutations in NF1 gene in the development of chemoresistance in melanoma, neuroblastoma, ovarian and breast cancer, and lung cancer is described (only if there are no mutations of known protooncogenes). To overcome the resistance of these neoplasms, inhibitors of mitogen-activated protein kinase have been proposed, the effectiveness of which has been proven in the treatment of plexiform neurofibromas. The review presents evidence of the relationship between NF1 and microRNA, which can be used for targeted therapy of both neurofibromatosis type 1 and sporadic neoplasms with mutations of this gene. Prospects for gene therapy of these diseases are considered.

В обзорной статье представлены данные о роли соматической инактивации гена нейрофибромина NF1 в развитии спорадических злокачественных неоплазм. рассмотрена взаимосвязь особенностей опухолевого синдрома при нейрофиброматозе 1-го типа и специфических типов спорадических новообразований, при которых наиболее часто обнаруживают мутации в гене NF1. Описаны примеры химиорезистентности меланомы, нейробластомы, рака яичника, молочной железы и легких, обусловленной мутациями в этом гене (при условии отсутствия мутаций известных протоонкогенов). Для преодоления устойчивости к химиотерапии данных новообразований предложено использовать ингибиторы митоген-активируемой протеинкиназы, эффективность которых доказана при лечении плексиформных нейрофибром. представлены данные о взаимосвязи NF1 и микрорнк, которые могут быть применены в таргетной терапии нейрофиброматоза 1-го типа и спорадических неоплазм с мутациями данного гена. рассмотрены перспективы генной терапии данных заболеваний.

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