NGS как вспомогательный инструмент для дифференциальной диагностики солидных опухолей: клинический случай и обзор литературы

Молекулярно‑генетическое профилирование солидных опухолей методом секвенирования нового поколения (next generation sequencing, NGS) широко применяется для подбора терапии таргетными препаратами. В тоже время, за редкими исключениями, NGS не показал себя как надежный инструмент для дифференциальной диагностики заболеваний. Однако некоторые типы опухолей имеют характерные соматические мутации, и их выявление может послужить поводом для уточнения диагноза с применением стандартных методов. Примером таких мутаций являются специфические нарушения в гене EGFR, встречающиеся исключительно при раке легкого. В описываемом клиническом случае у пациентки был установлен диагноз аденокарцинома кожи. Молекулярно‑генетическое профилирование выявило делецию в экзоне 19 гена EGFR, что послужило поводом для проведения дополнительных гистологических исследований и пересмотра диагноза в пользу аденокарциномы легкого; это демонстрирует возможность использования результатов молекулярного профилирования в качестве вспомогательного метода дифференцировки подтипов рака.

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