Стратификация пациентов cо множественной миеломой: современное состояние вопроса и дальнейшие перспективы

А.Ю. Аксенова1, А.С. Жук2, Е.И. Степченкова1,3, С.В. Грицаев4

1 ФГБОУ ВО «Санкт-Петербургский государственный университет», Университетская наб., д. 7/9, Санкт-Петербург, Российская Федерация, 199034

2 ФГАОУ ВО «Национальный исследовательский университет ИТМО», Кронверкский пр-т, д. 49, лит. А, Санкт-Петербург, Российская Федерация, 197101

3 ФГБУН «Институт общей генетики им. Н.И. Вавилова РАН», Санкт-Петербургский филиал, Университетская наб., д. 7/9, Санкт-Петербург, Российская Федерация, 199034

4 ФГБУ «Российский НИИ гематологии и трансфузиологии ФМБА России», ул. 2-я Советская, д. 16, Санкт-Петербург, Российская Федерация, 191024

Для переписки: Анна Юрьевна Аксенова, канд. биол. наук, ул. Ботаническая, д. 17, Санкт-Петербург, Российская Федерация, 198504; тел.: +7(812)428-40-09; e-mail: a.aksenova@spbu.ru; Сергей Васильевич Грицаев, д-р мед. наук, ул. 2-я Советская, д. 16, Санкт-Петербург, Российская Федерация, 191024; тел.: +7(812)717-54-68; e-mail: gritsaevsv@mail.ru

Для цитирования: Аксенова А.Ю., Жук А.С., Степченкова Е.И., Грицаев С.В. Стратификация пациентов cо множественной миеломой: современное состояние вопроса и дальнейшие перспективы. Клиническая онкогематология. 2022;15(3):259–70.

DOI: 10.21320/2500-2139-2022-15-3-259-270


РЕФЕРАТ

В последние годы наблюдается существенный прогресс в улучшении выживаемости без прогрессирования (ВБП) и качества жизни пациентов со множественной миеломой (ММ). Это стало возможным благодаря внедрению в клиническую практику новых препаратов, разработанных с учетом данных мультиомиксных молекулярно-генетических исследований при ММ. Результаты этих исследований позволили также оценить уровень генетической гетерогенности опухолевых клеток при ММ. Так, были выявлены типы и частота однонуклеотидных вариаций, структурных изменений хромосом и нарушений копийности хромосом, встречающихся в геноме злокачественных плазматических клеток. Показано, что у разных пациентов с ММ существенно отличается спектр выявляемых генетических нарушений в опухоли. Высокая генетическая гетерогенность заболевания служит одной из главных причин различной эффективности лекарственных препаратов и различий в ВБП. В настоящем обзоре подробно рассматривается вопрос о значении ряда хромосомных аберраций для распределения больных ММ по группам риска. Представлено описание наиболее частых аберраций, в т. ч. с высоким и низким риском раннего прогрессирования ММ, уже включенных в различные международные прогностические шкалы. Кроме того, определены дополнительные аберрации, которые обладают потенциалом для применения в клинической практике. Особое внимание уделяется проблеме оценки риска при обнаружении нескольких различных хромосомных перестроек у одного пациента. В обзоре описаны трудности и перспективы использования информации о хромосомных перестройках для выбора наиболее оптимальных схем лечения и оценки их эффективности. В этом контексте важное значение придается проблемам интеграции генетических данных и таких клинических показателей, как возраст больного, сопутствующие заболевания, почечная дисфункция, степень поражения костей, показания к трансплантации аутологичных гемопоэтических стволовых клеток и др.

Ключевые слова: множественная миелома, международные системы стадирования, хромосомные перестройки, R-ISS, R2-ISS, mSMART, MASS.

Получено: 28 марта 2022 г.

Принято в печать: 5 июня 2022 г.

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Статистика Plumx русский

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