Генетические особенности опухолей невыявленной первичной локализации

Генетические особенности опухолей невыявленной первичной локализации

Автор: Щеголева А.А., Третьякова М.С., Воробьев Р.С., Ананина О.А., Бокова У.А., Денисов Е.В.

Журнал: Сибирский онкологический журнал @siboncoj

Рубрика: Клинические исследования

Статья в выпуске: 6 т.21, 2022 года.

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Введение. Опухоли невыявленной первичной локализации (ОНПЛ) представляют собой метастатические очаги, для которых стандартное диагностическое исследование не позволяет определить первичный опухолевый очаг на момент постановки диагноза. Частота выявления ОНПЛ невысокая, однако данное заболевание характеризуется агрессивностью течения, низкой эффективностью лечения и плохой выживаемостью. Поэтому понимание биологии и механизмов формирования этих злокачественных новообразований является важной задачей. Цель исследования - идентификация генетических нарушений, характерных для ОНПЛ. Материал и методы. В исследовании использовалось полноэкзомное секвенирование образцов ОНПЛ. Результаты. В ОНПЛ обнаружены однонуклеотидные изменения в гене эфринового рецептора EPHA8. Помимо этого, для ОНПЛ были характерны аберрации числа копий ДНК в хромосомных регионах, содержащих гены ID2, FOXD4, ZMYND11, ZNF596, KIDINS220, LRRN1, GEMIN4, CEP72, TPPP и MXRA5. Функциональное аннотирование вышеуказанных генов показало их вовлеченность в транскрипцию, биогенез микроРНК, клеточный цитоскелет, адгезию, ремоделирование внеклеточного матрикса, пролиферацию, апоптоз и эпителиально-мезенхимальный переход. Заключение. Для ОНПЛ характерны нарушения генов, вовлеченных в регуляцию различных биологических процессов, главным образом клеточной миграции.

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Метастаз, невыявленный первичный очаг, мутация, ген, секвенирование

Короткий адрес: https://sciup.org/140296692

IDR: 140296692   |   DOI: 10.21294/1814-4861-2022-21-6-38-46

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