Ключевые слова
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Аннотация
Микросателлитной нестабильностью (microsatellite instability, MSI) называется феномен накопления мутаций (делеций и инсерций) в коротких повторяющихся последовательностях ДНК. Наиболее частой причиной MSI является дефект системы репарации неспаренных оснований ДНК (mismatch repair deficiency, dMMR). Анализ MSI/dMMR используется при диагностике синдрома Линча, а также для отбора пациентов на терапию ингибиторами контрольных точек иммунного ответа. Тестирование MSI подразумевает анализ длины нескольких информативных микросателлитных маркеров при помощи ПЦР или NGS, а выявление dMMR основывается на иммуногистохимическом анализе экспрессии белков MLH1, MSH2, MSH6 и PMS2. Эти методы можно считать взаимозаменяемыми в случае колоректального рака, поэтому при анализе карцином толстой кишки выбор между тестированием MSI и dMMR может определяться организационными и экономическими предпочтениями. Карциномы с низкой пролиферативной активностью, в т.ч. ассоциированные с синдромом Линча, могут демонстрировать dMMR в отсутствие MSI, при этом они отличаются низкой мутационной нагрузкой и отсутствием чувствительности к иммунотерапии. Процедуры выявления микросателлитной нестабильности в неколоректальных опухолях остаются недостаточно стандартизованными и нуждаются в дальнейшем совершенствовании.
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