References

tumors

Malignant tumours

2224-50572587-6813

Rosoncoweb

10.18027/2224-5057-2022-12-3s1-9-16

tumors-995

Research Article

Статьи

Молекулярный профиль нейроэндокринных опухолей

Исянгулова

А. З.

Казань

a.isyangulova@rambler.ru

Гордиев

М. Г.

Санкт-Петербург

ГАУЗ «Республиканский клинический онкологический диспансер Министерства здравоохранения Республики Татарстан имени профессора М. З. Сигала»Russian FederationООО «Лечебно-диагностический центр Медицинского института имени Березина Сергея»Russian Federation

2022

18112022

123s1916

2022

Исянгулова А.З., Гордиев М.Г.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.malignanttumors.org/jour/article/view/995

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

нейроэндокринныеопухоликарциноидмолекулярный профильгенетические исследованиямутациясеквенирование

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The authors declare that there are no conflicts of interest present.