ketendoКлиническая и экспериментальная тиреоидологияClinical and experimental thyroidology1995-54722310-3787Endocrinology Research Centre10.14341/ket2016146-52ketendo-7942Research ArticleКлинический случайCase ReportРедкая герминальная мутация с.2752 A>G (p.M918V) в протоонкогене RET, выявленная у больного с метастазами медуллярного и папиллярного рака щитовидной железы в лимфатических узлах шеиA rare germline mutation c.2752 A>G (p.M918V) in the RET protooncogene in a patient with medullary and papillary thyroid carcinomas in cervical lymph node metastases: a case report and review of the literatureАмосенкоФаина АркадьевнаAmosenkoFaina A.

к.б.н., ведущий научный сотрудник лаборатории ДНК-диагностики, Медико-генетический научный центр; ведущий научный сотрудник лаборатории клинической онкогенетики, Российский онкологический научный центр им. Н.Н. Блохина, Москва, Россия

MD,PhD

amossenko@med-gen.ruХвостовойВладимир ВладимировичKhvostovoyVladimir V.

к.м.н., доцент, заведующий кафедрой онкологии, хирург-онколог, Курский областной клинический онкологический диспансер, Курск, Россия

MD,PhD, Assistant Professor

XVV555@rambler.ruЩагинаОльга АнатольевнаShchaginaOlga A.

к.м.н., старший научный сотрудник лаборатории ДНК-диагностики, Медико-генетический научный центр, Москва, Россия

MD,PhD

schagina@dnalab.ruПоляковАлександр ВладимировичPolyakovAlexandr V.

д.б.н., профессор РАН, заведующий лабораторией ДНК-диагностики, Медико-генетический научный центр, Москва, Россия

PhD, Professor

apol@dnalab.ruФГБНУ “Медико-генетический научный центр”; ФГБУ “Российский онкологический научный центр им. Н.Н. Блохина”РоссияResearch Centre for Medical Genetics; N.N. Blokhin Cancer Research CenterRussian FederationОБУЗ “Курский областной клинический онкологический диспансер”РоссияRegional Сlinical Oncological Hospital, KurskRussian FederationФГБНУ “Медико-генетический научный центр”РоссияResearch Centre for Medical Genetics, MoscowRussian Federation2016230620161214652Copyright © Амосенко Ф.А., Хвостовой В.В., Щагина О.А., Поляков А.В., 20162016Амосенко Ф.А., Хвостовой В.В., Щагина О.А., Поляков А.В.Amosenko F.A., Khvostovoy V.V., Shchagina O.A., Polyakov 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/7942

У больного 62 лет, прооперированного в связи с рецидивом папиллярного рака щитовидной железы, в удаленных лимфоузлах клетчатки шеи были выявлены метастазы. Метастатическая опухолевая ткань была представлена папиллярной карциномой (ПКЩЖ) (фолликулярный вариант), перемешанной со значительно доминирующей иммунофенотипически отличной медуллярной карциномой щитовидной железы (МКЩЖ). С целью исключения наследственной МКЩЖ для пробанда был проведен сиквенс шести экзонов протоонкогена RET: 10, 11, 13–16 – с использованием геномной ДНК, выделенной из лимфоцитов периферической крови больного. В экзоне 16 неожиданно была выявлена редкая герминальная мутация с.2752 A>G (p.Met918Val) в одной из двух копий протоонкогена RET. Уровень кальцитонина через 4 мес после операции – 20 пг/мл при норме 2–6 пг/мл. У больного было исключено наличие феохромоцитомы и гиперпаратиреоза. При генетическом анализе родственников гетерозиготная замена с.2752 A>G обнаружена у здорового старшего сына пробанда (37 лет), но не найдена у его 96-летней матери и младшего сына. ДНК отца пробанда была недоступна. Мутация р.М918V отсутствует в хромосомах здоровых индивидов (n = 100). Представлено описание больного.

We report a rare germline RET mutation c.2752 A>G (p.M918V) found in a 62-year-old man with synchronous medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC) (follicular variant) in cervical lymph node metastases with significant predominance of MTC. DNA sequencing of six exons (10, 11, 13–16) of the RET protooncogene from peripheral blood leucocytes was performed to exclude hereditary MTC in our patient. Postoperative CT was 20 pg/ml (N = 2–6 pg/ml). Pheochromocytoma and hyperparathyroidism were excluded. Genetic analysis of first-degree relatives showed that one of them, the healthy eldest son (37 y.o.), was a carrier of rare ATG>GTG heterozygous mutation at position c.2752 of the protooncogene RET. A 96-year-old mother of the patient and his younger son have not this mutation. The proband`s father was not available. The mutation was not revealed in 100 unrelated normal individuals. The clinical history is presented.

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