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Аннотация
В настоящем обзоре литературы представлены наиболее актуальные научные сведения относительно молекулярно-генетических особенностей гастроинтестинальных стромальных опухолей (ГИСО). ГИСО - это гетерогенная группа мезенхимальных новообразований ЖКТ, которые согласно современным представлениям происходят из интерстициальных клеток кахаля. Установлено, что при данном заболевании выявляются соматические мутации: в подавляющем большинстве случаев в опухолевых клетках обнаруживаются активирующие мутации в генах kit или PDGFRA, которые кодируют эффекторные тирозинкиназы. Конститутивная активация этих ферментов запускает сложный каскад внутриклеточных реакций, итогом которого является усиление клеточной пролиферации и опухолевый рост. При отсутствии вышеупомянутых драйверных мутаций ГИСО относят к «дикому типу». Профиль мутаций влияет на агрессивность течения ГИСО и чувствительность к таргетным противоопухолевым препаратам. Таким образом, проведение мутационного анализа в случае с ГИСО имеет огромное прогностическое значение.
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