Russian Journal of OncologyRussian Journal of OncologyРоссийский онкологический журнал1028-99842412-9119Eco-Vector4001510.17816/onco40015ArticlesСтатьиReview ArticleFamily medullary thyroid cancer: etiology, pathogenesis, diagnosisНаследственный медуллярный рак щитовидной железы: этиология, патогенез, диагностика (часть I)YukinaM. YuЮкинаМарина Юрьевна

канд. мед. наук, ст. науч. сотр. отд-ния терапии

endo-yukina@yandex.ruTroshinaE. AТрошинаЕкатерина АнатольевнаBeltsevichD. GБельцевичДмитрий ГермановичRumyantsevP. OРумянцевПавел ОлеговичFederal Endocrinological Research CenterФГБУ "Эндокринологический научный центр" Минздрава России15062013183NO3 (2013)№3 (2013)525622072020Copyright ©; 2013, Eco-VectorCopyright ©; 2013, ООО "Эко-Вектор"2013Eco-VectorООО "Эко-Вектор"https://rjonco.com/1028-9984/article/view/40015

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.

Медуллярный рак щитовидной железы (МРЩЖ) составляет 2—8% злокачественных новообразований органа. МРЩЖ представлен главным образом спорадическим вариантом, однако 20—30% — это семейные случаи, причиной которых является герминальная точечная мутация гена RET с аутосомно-доминантным типом наследования. Имеются четкие генотип-фенотип-корреляции между локализацией RET-мутации (генотип) и возрастом манифестации опухоли, агрессивностью МРЩЖ, присутствием опухолей других эндокринных органов в составе синдромов множественной эндокринной неоплазии IIа и IIб типов (фенотип). МРЩЖ считается опухолью с тенденцией к медленному росту, но рано метастазирующей. Регионарными метастазами чаще всего поражаются лимфатические узлы шеи и средостения, отдаленными — легкие, печень, кости. Кальцитонин — высокочувствительный биомаркер медуллярной карциномы как первичной так и рецидива.

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