ketendoКлиническая и экспериментальная тиреоидологияClinical and experimental thyroidology1995-54722310-3787Endocrinology Research Centre10.14341/ket12832ketendo-12832Research ArticleНаучный обзорReviewГенетическая диагностика наследственных и спорадических форм медуллярного рака щитовидной железы: клиническое значение и перспективыGenetic diagnosis of hereditary and sporadic forms of medullary thyroid cancer: clinical importance and perspectiveshttps://orcid.org/0000-0001-5592-4794ШевэА.ChevaisA.

Шевэ Анастасия, к.м.н.

117292, Москва, ул. Дм. Ульянова, д. 11

Anastassia Chevais, MD, PhD

11 Dm. Ulyanova street, 117292, Moscow

anastassia93@gmail.comhttps://orcid.org/0009-0003-5232-6440ГаджиеваК. Ш.GadzhievaK. Sh.

Гаджиева Камила Шамильевна

Москва

Kamila Sh. Gadzhieva

Moscow

kamila_super9@mail.ruhttps://orcid.org/0000-0002-3220-2438СлащукК. Ю.SlashchukK. Yu.

Слащук Константин Юрьевич, к.м.н.

Москва

Konstantin Yu. Slashchuk, MD, PhD

Moscow

slashuk911@gmail.comhttps://orcid.org/0000-0003-2122-2297БондаренкоЕ. В.BondarenkoE. V.

Бондаренко Екатерина Владимировна, к.м.н.

Москва

Ekaterina V. Bondarenko, MD, PhD

Moscow

bondarenko.ekaterina@gmail.comhttps://orcid.org/0000-0002-3951-4338ЭбзееваА. К.EbzeevaA. K.

Эбзеева Аминат Канаматовна

Москва

Aminat K. Ebzeeva, MD

Moscow

ebzeeva3007@gmail.comhttps://orcid.org/0000-0001-7098-4584БельцевичД. Г.BeltsevichD. G.

Бельцевич Дмитрий Германович, д.м.н., профессор

Москва

Dmitry G. Beltsevich, MD, PhD, professor

Moscow

belts67@gmail.comНациональный медицинский исследовательский центр эндокринологии им. академика И.И. ДедоваРоссияI.I. Dedov National Medical Research Center of EndocrinologyRussian Federation2025040920252113041Copyright © Шевэ А., Гаджиева К.Ш., Слащук К.Ю., Бондаренко Е.В., Эбзеева А.К., Бельцевич Д.Г., 20252025Шевэ А., Гаджиева К.Ш., Слащук К.Ю., Бондаренко Е.В., Эбзеева А.К., Бельцевич Д.Г.Chevais A., Gadzhieva K.S., Slashchuk K.Y., Bondarenko E.V., Ebzeeva A.K., Beltsevich D.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.cet-endojournals.ru/jour/article/view/12832

Медуллярный рак щитовидной железы (МРЩЖ) представляет собой редкую нейроэндокринную опухоль, происходящую из парафолликулярных С-клеток. Заболевание может иметь как спорадическое, так и наследственное происхождение, входя в состав синдромов множественной эндокринной неоплазии типов 2A и 2B. Генетический анализ спорадического МРЩЖ показывает значительную вариативность по сравнению с наследственными формами этого заболевания. В настоящей обзорной работе обобщены современные данные о частоте и прогностическом значении мутаций RET и RAS, представлена информация о молекулярно-генетической характеристике МРЩЖ и возможностях персонализированной терапии тирозинкиназными ингибиторами. Рассматриваются подходы к молекулярной диагностике с акцентом на их клиническую значимость при верификации диагноза, оценке риска рецидива и выборе терапии. Детально проанализированы последние данные о частоте соматических мутаций в спорадических формах МРЩЖ, их взаимной исключительности и связи с биологическим поведением опухоли.

Medullary thyroid cancer is a rare neuroendocrine tumor that originates from parafollicular C-cells. The etiology of the disease can be either sporadic or hereditary, and it is associated with multiple endocrine neoplasia syndromes types 2A and 2B. Genetic analysis of sporadic MTC reveals significant variation when compared to hereditary forms of the disease. This review paper summarizes current data on the frequency and prognostic significance of RET and RAS mutations, providing information on the molecular genetic characterization of MTC and the possibilities of personalized therapy with tyrosine kinase inhibitors. An examination of the approaches to molecular diagnostics is undertaken, with particular emphasis on their clinical significance in verifying diagnoses, assessing the risk of relapse, and selecting therapy. A thorough analysis of recent data on the frequency of somatic mutations in sporadic forms of breast cancer, their mutual exclusivity, and their relationship to the biological behavior of the tumor is presented herein.

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