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Проведено ретроспективно-проспективное клиническое аналитическое исследование 137 пациентов с медуллярным раком щитовидной железы (МРЩЖ). Выявлена крайне низкая 35%-ная чувствительность тонкоигольной аспи-рационной биопсии и высокая чувствительность исследования уровня базального кальцитонина в диагностике МРЩЖ. Представлены результаты изучения спектра терминальных и спорадических мутаций генов RET и RAS на российской популяции, доказано влияние вида мутации на агрессивность течения МРЩЖ.
Ключевые слова:
медуллярный рак щитовидной железы, синдром множественных эндокринных неоплазий 2 типа, кальцитонин, раковоэмбриональный антиген, RET-протоонкоген, тонкоигольная аспирационная биопсия.
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In the study were enrolled 137 patients with medullary thyroid cancer (MTC). Low 35%-sensitivity of FNAC and high accuracy of basal calcitonin in MTC diagnostics were found. Mutation analysis of the RET pro-tooncogene in familial and sporadic MTC, RAS-gene in sporadic MTC were done. The correlation between type of the mutation and disease aggressiveness was found
Keywords:
medullary thyroid cancer, multiple endocrine neoplasia syndrome type 2, calcitonin, CEA, RET-proto-oncogene, fine-needle aspiration citology.