Молекулярный профиль нейроэндокринных опухолей
https://doi.org/10.18027/2224-5057-2022-12-3s1-9-16
Аннотация
Рост заболеваемости нейроэндокринными опухолями увеличивает интерес к изучению генетического ландшафта новообразований. В большей степени нейроэндокринные опухоли (НЭО) исследованы в контексте наследственных генетических синдромов, включая гены, такие как MEN1, VHL, TSC1 / TSC2, NF1 и CDKN1B. Взаимосвязь между наследственными (генеративными) мутациями в генах системы репараций ДНК и нейроэндокринными опухолями на сегодня практически не изучена.
В условиях ГАУЗ «Республиканский клинический онкологический диспансер Министерства здравоохранения Республики Татарстан имени профессора М. З. Сигала» был изучен молекулярный профиль пациентов с диагнозом «нейроэндокринная опухоль» в зависимости от наследственного анамнеза. В проведенном исследовании у каждого четвертого пациента обнаруживались патогенные мутации. У 33 % пациентов при наличии наследственного анамнеза выявлены патогенные, либо условно-патогенные мутации
Ключевые слова
нейроэндокринные,
опухоли,
карциноид,
молекулярный профиль,
генетические исследования,
мутация,
секвенирование
Об авторах
А. З. Исянгулова
ГАУЗ «Республиканский клинический онкологический диспансер Министерства здравоохранения Республики Татарстан имени профессора М. З. Сигала»
Россия
Россия
Казань
М. Г. Гордиев
ООО «Лечебно-диагностический центр Медицинского института имени Березина Сергея»
Россия
Россия
Санкт-Петербург
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Рецензия
Для цитирования:
Исянгулова А.З., Гордиев М.Г. Молекулярный профиль нейроэндокринных опухолей. Злокачественные опухоли. 2022;12(3s1):9-16. https://doi.org/10.18027/2224-5057-2022-12-3s1-9-16
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