ISSN (print) 1997-6933     ISSN (online) 2500-2139
Том 18 № 1 (2025), ОБЗОРЫ
Том 18 № 1 (2025)
ОБЗОРЫ

Роль соматических мутаций в различных генах и проблема резистентности к ингибиторам тирозинкиназ у пациентов с хроническим миелолейкозом (обзор литературы)

Опубликовано 01.01.2025
Елена Андреевна Кузьмина
ФГБУ «НМИЦ гематологии» Минздрава России, Новый Зыковский пр-д, д. 4, Москва, Российская Федерация, 125167
https://orcid.org/0000-0002-9181-6050
Е.Ю. Челышева
ФГБУ «НМИЦ гематологии» Минздрава России, Новый Зыковский пр-д, д. 4, Москва, Российская Федерация, 125167
https://orcid.org/0000-0001-6423-1789
Б.В. Бидерман
ФГБУ «НМИЦ гематологии» Минздрава России, Новый Зыковский пр-д, д. 4, Москва, Российская Федерация, 125167
https://orcid.org/0000-0002-6253-3334
А.Г. Туркина
ФГБУ «НМИЦ гематологии» Минздрава России, Новый Зыковский пр-д, д. 4, Москва, Российская Федерация, 125167
https://orcid.org/0000-0001-9947-2371
2025-1
PDF_2025-18-1-10-20

Ключевые слова

хронический миелолейкоз
соматические мутации в генах
неудача терапии
резистентность

Как цитировать

Кузьмина Е.А., Челышева Е.Ю., Бидерман Б.В., Туркина А.Г. Роль соматических мутаций в различных генах и проблема резистентности к ингибиторам тирозинкиназ у пациентов с хроническим миелолейкозом (обзор литературы). Клиническая онкогематология. 2025;(1):10–20. doi:10.21320/2500-2139-2025-18-1-10-20.
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Аннотация

Применение ингибиторов тирозинкиназ (ИТК) значительно улучшило прогноз у большинства пациентов с хроническим миелолейкозом (ХМЛ). Однако проблема резистентности к терапии ИТК по-прежнему остается чрезвычайно актуальной. В настоящее время активно изучается молекулярно-генетический профиль опухолевых клеток у больных ХМЛ и роль соматических мутаций в различных генах помимо BCR::ABL1 в развитии резистентности к терапии ИТК. Появляются новые данные о частоте соматических мутаций в различных генах ко времени первичной диагностики ХМЛ, обычно в хронической фазе, о клональных изменениях во время лечения, в т. ч. при прогрессировании заболевания. Особый интерес представляет изучение роли соматических мутаций в генах при трансформации ХМЛ в фазу акселерации и бластного криза. Важное значение имеет срок между обнаружением соматических мутаций и временем регистрации прогрессирования заболевания. Цель настоящего обзора заключается в представлении результатов последних наиболее актуальных исследований молекулярно-генетического профиля пациентов с ХМЛ на разных этапах течения болезни. В своих исследованиях авторы стремятся выявить связь между наличием соматических мутаций в генах и ответом на терапию ИТК, оценить прогностическое значение мутаций, обнаруженных на этапе первичной диагностики и на фоне терапии ХМЛ. В перспективе полученные знания можно было бы использовать в клинике для оптимизации лечения с точки зрения выбора наиболее эффективного ИТК и назначения таргетных препаратов, направленных на альтернативные генетические мишени, а также раннего выполнения трансплантации аллогенных гемопоэтических стволовых клеток. Изучение роли наиболее часто встречающихся соматических мутаций в различных генах помимо BCR::ABL1, а также проблем, связанных с резистентным течением болезни, привлекает внимание гематологов и представителей фундаментальной науки как актуальное и клинически востребованное направление исследований при ХМЛ.

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