Family medullary thyroid cancer: etiology, pathogenesis, diagnosis


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Medullary thyroid cancer (MTC) represents 2-8 % of thyroid malignancies. Predominantly MTC have sporadic nature but 20-30% of cases are hereditary caused by germ line missense mutation in RET gene with autosomal dominant inheritance. There are precise genotype-phenotype correlations of RET mutation location (genotype) with tumor manifestation age, disease aggressiveness, presence of components of multiple endocrine neoplasia syndrome 2a and 2b types (phenotype). MTC is considering as slow-growing tumor but early metastasizing. Regional metastases frequently involve neck and mediastinal lymph nodes, distant — lungs, liver and bones. Calcitonin — highly sensitive biomarker of either primary or recurrent MTC.

作者简介

M. Yukina

Federal Endocrinological Research Center

Email: endo-yukina@yandex.ru
канд. мед. наук, ст. науч. сотр. отд-ния терапии

E. Troshina

Federal Endocrinological Research Center

D. Beltsevich

Federal Endocrinological Research Center

P. Rumyantsev

Federal Endocrinological Research Center

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