ketendoКлиническая и экспериментальная тиреоидологияClinical and experimental thyroidology1995-54722310-3787Endocrinology Research Centre10.14341/ket2016255-64ketendo-8018Research ArticleОбзоры литературыReview of literatureМолекулярно-генетическая структура фолликулярно-клеточного рака щитовидной железыMolecular genetics of follicular cell thyroid carcinomaЯкушинаВалентина ДмитриевнаYakushinaValentina D.

к.м.н.,научный сотрудник

PhD

vdyakushina@gmail.comЛернерЛариса ВладимировнаLernerLarisa V.

врач-эндокринолог

MD

info@pre-med.ruКазубскаяТатьяна ПавловнаKazubskayaTatiana P.

д.м.н., ведущий научный сотрудник

PhD

kazubskaya@yahoo.comКондратьеваТатьяна ТихоновнаKondrat'ievaTatiana T.

д.м.н., ведущий научный сотрудник

PhD

ttkondr@gmail.comСубраманианСомасундарамSubramanianSomasundaram -

хирург-онколог

MD

drsoma@gmail.comЛавровАлександр ВячеславовичLavrovAlexander V.

к.м.н., заведующий лабораторией

PhD

 

avlavrov@yandex.ruФГБНУ “Медико-генетический научный центр”РоссияResearch Centre for Medical GeneticsRussian FederationООО «ПреМед»РоссияPreMed-European TechnologiesRussian FederationФГБНУ “Российский онкологический научный центр им. Н.Н. Блохина”,РоссияN.N. Blokhin Russian Cancer Research CenterRussian FederationФГБНУ “Российский онкологический научный центр им. Н.Н. Блохина”РоссияN.N. Blokhin Russian Cancer Research CenterRussian FederationЕвразийская федерация онкологии; АНО “Научно-образовательный центр “Евразийская онкологическая программа «ЕАФО»”РоссияEurasian Federation of Oncology; EAFO Educational & Research CenterRussian FederationФГБНУ “Медико-генетический научный центр”; ФГБОУ ВО “Российский национальный исследовательский медицинский университет им. Н.И. Пирогова”РоссияResearch Centre for Medical Genetics; N.I. Pirogov Russian National Research Medical UniversityRussian Federation201606092016122Том 12, №2 (2016)5564Copyright © Якушина В.Д., Лернер Л.В., Казубская Т.П., Кондратьева Т.Т., Субраманиан С.-., Лавров А.В., 20162016Якушина В.Д., Лернер Л.В., Казубская Т.П., Кондратьева Т.Т., Субраманиан С., Лавров А.В.Yakushina V.D., Lerner L.V., Kazubskaya T.P., Kondrat'ieva T.T., Subramanian S.-., Lavrov A.V.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/8018

Рак щитовидной железы лидирует по частоте среди злокачественных новообразований эндокринной системы. В большинстве случаев опухолевые клетки имеют фолликулярно-клеточное происхождение. Диагностика рака основана на проведении цитологического анализа биоптатов узлов щитовидной железы, точность которого не превышает 80%. Это ведет как к ложноположительным, так и ложноотрицательным диагнозам и выбору неправильной тактики лечения. Выявление в биоптатах генетических и эпигенетических маркеров рака щитовидной железы позволит повысить точность диагноза. В данной статье описаны мутации, аберрантное метилирование ДНК и аберрантная экспрессия микроРНК, составляющие основу молекулярно-генетической структуры фолликулярно-клеточного рака щитовидной железы. Мутации, характерные для данного типа рака щитовидной железы, включают точковые, хромосомные перестройки и изменение числа копий генов. Помимо распространенных и хорошо описанных драйверных мутаций генов сигнальных путей МАРK, PI3K/Akt и Wnt, а также генов TP53 иTERT, в данной работе приведены более редкие мутации, выявленные за последние два года. В статье также представлены примеры использования диагностических панелей, основанных на анализе молекулярно-генетических маркеров.

Thyroid cancer is the most frequent endocrine malignancy. In the most cases thyroid cancer arises from follicular cells. Diagnosis of the cancer is based on the cytological analysis of fine needle aspiration biopsy of thyroid nodes. But the accuracy of the cytological diagnosis is about 80% that leads to the false positive and false negative cases and wrong strategy of treatment. Identification of genetic and epigenetic markers in the biopsies will allow to improve diagnostic accuracy. This article describes mutations, aberrant DNA methylation and abnormal microRNA expression constituting the core of molecular genetics of follicular cell thyroid cancer. The mutations given in the article includes point mutations, fusions and copy number variation. Besides frequent and well described driver mutations in genes of МАРK, PI3K/Akt and Wnt signaling pathways, as well as TP53 and TERT genes, we introduce here less frequent mutations appeared in the literature during the past two years. In addition the article contains examples of diagnostic panels applying these markers.

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