medbioМедико-биологические проблемы жизнедеятельностиMedical and Biological Problems of Life Activity2074-2088Республиканский научно-практический центр радиационной медицины и экологии человекаmedbio-163Research ArticleОБЗОРЫ И ПРОБЛЕМНЫЕ СТАТЬИREVIEWS AND PROBLEM ARTICLESПрогностическое значение цитогенетических и молекулярно-генетических изменений при множественной миеломеPrognostic significance of cytogenetic and molecular genetic rearrangements in multiple myelomaКозичЖ. М.KozichZh. M.noemail@neicon.ruГУ «РНПЦ радиационной медицины и экологии человека»Russian Federation20220203202302611Copyright © Козич Ж.М., 20232023Козич Ж.М.Kozich Z.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://medbio.ejournal.by/jour/article/view/163

Множественная миелома в настоящее время является неуклонно прогрессирующим и не имеющим радикального излечения заболеванием. Одним из основных признаков, влияющих на прогноз при множественной миеломе, является наличие специфических цитогенетических транслокаций или мутаций. Эти данные включены в международную систему стадирования заболевания R-ISS. Пациенты с различными генетическими изменениями имеют свои клинические особенности течения миеломы и отличаются по способности ответа на терапию и по прогнозу. Использование цитогенетического исследования в практике помогает клиницисту уже на первичном этапе диагностики стратифицировать пациентов по группе риска и, учитывая клинические особенности течения, проводить индивидуальный подбор терапии. В статье систематизированы данные об основных цитогенетических и молекулярно-генетических маркерах при множественной миеломе, имеющих прогностическое значение, а также представлен клинический случай неблагоприятного течения ММ.

Multiple myeloma is a malignant tumor of B-lymphocytes with a different clinical picture and course, which is based on cytogenetic and molecular genetic changes. Due to the use of new diagnostic methods FISH (fluorescence in situ hybridization) and NGS (new generation sequencing), it became possible to detect various anomalies associated with the course and prognosis at the initial stage. This makes it possible to stratify patients by risk groups and take these data into account when choosing therapy. High-risk aberrations include deletion 17pt, (4;14), t(14;16), t(14;20), and chromosome 1 abnormalities, as well as mutations in the KRAS and NRAS genes. Patients with these changes are at high risk. They have a lower survival rate and worse prognosis compared to the standard risk group. Therefore, clinicians need to take into account the data of cytogenetics and molecular genetics when making a decision regarding treatment. This will improve the survival and quality of life of this group. The article presents an overview of the most common cytogenetic and molecular genetic rearrangements in multiple myeloma, in confirmation a description of a clinical case is given.

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