medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2024.06.3-10medgen-2482Research ArticleНАУЧНЫЙ ОБЗОРREVIEWОднонуклеотидные замены в генах сигнального пути МАРК (NRAS, KRAS, BRAF) при плазмоклеточных новообразованияхSingle nucleotide polymorphisms in the mark signaling pathway genes (NRAS, KRAS, BRAF) in plasma cell neoplasmsРуденковаТ. В.RudenkovaT. V.

220083, г. Минск, пр. Дзержинского, д. 83

83, Dzerzhinsky Ave., Minsk, 220083

КлимковичН. Н.KlimkovichN. N.

220083, г. Минск, пр. Дзержинского, д. 83

83, Dzerzhinsky Ave., Minsk, 220083

КостюкС. А.KostiukS. A.

220083, г. Минск, пр. Дзержинского, д. 83

83, Dzerzhinsky Ave., Minsk, 220083

КозичЖ. М.KozichJ. M.

246040, г. Гомель, ул. Ильича, д. 290

290, Ilyicha st., Gomel, 246040

Белорусский государственный медицинский университетБеларусьBelarusian State Medical UniversityBelarusРеспубликанский научно-практический центр радиационной медицины и экологии человекаБеларусьRepublican Scientific and Practical Center for Radiation Medicine and Human EcologyBelarus202419082024236310Copyright © Руденкова Т.В., Климкович Н.Н., Костюк С.А., Козич Ж.М., 20242024Руденкова Т.В., Климкович Н.Н., Костюк С.А., Козич Ж.М.Rudenkova T.V., Klimkovich N.N., Kostiuk S.A., Kozich J.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2482

Плазмоклеточные новообразования представляют собой мультифокальную неопластическую пролиферацию плазматических клеток, секретирующих моноклональный белок. При формировании множественной миеломы происходит многоступенчатый процесс трансформации клеток, включающий изменения генетического профиля из-за дополнительных событий, таких как соматические мутации, эпигенетические и хромосомные изменения, что приводит к прогрессированию заболевания от моноклональной гаммапатии неуточненного значения до симптоматической множественной миеломы и, в конечном итоге, у некоторых пациентов к агрессивному экстрамедуллярному заболеванию. Профиль генетических изменений, ассоциированных с прогрессированием плазмоклеточных новообразований, включает однонуклеотидные замены в генах сигнального пути MAPK. Белки семейств RAS и RAF являются компонентами сигнального пути RAS/RAF/MEK/ERK, который переносит внешние сигналы в ядро клетки. Однонуклеотидные замены в генах RAS и RAF приводят к необоснованной активации каскадных реакций сигнального пути MAPK, вызывая изменения клеточного цикла и опосредуя злокачественную трансформацию клеток.

Plasma cell neoplasms are a multifocal neoplastic proliferation of plasma cells that secrete a monoclonal protein. During the formation of multiple myeloma, a multistep process of cell transformation occurs, including changes in the genetic profile due to additional events such as somatic mutations, epigenetic and chromosomal changes, which leads to the progression of the disease from monoclonal gammopathy of unspecified significance to symptomatic multiple myeloma and, ultimately, in some patients to aggressive extramedullary disease. The profile of genetic changes associated with the progression of plasma cell neoplasms includes single nucleotide polymorphisms in the genes of the MAPK signaling pathway. Proteins of the RAS and RAF families are components of the RAS/RAF/MEK/ERK signaling pathway, which transmits external signals into the cell nucleus. Single-nucleotide polymorphisms in the RAS and RAF genes lead to aberrant activation of the MAPK signaling pathway cascade reactions, causing changes in the cell cycle and mediating malignant transformation of cells.

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The authors declare that there are no conflicts of interest present.