Advances in Molecular OncologyAdvances in Molecular OncologyУспехи молекулярной онкологии2313-805X2413-3787Publishing House ABV Press24010.17650/2313-805X-2019-6-4-38-46RESEARCH ARTICLESЭКСПЕРИМЕНТАЛЬНЫЕ СТАТЬИClinical, anamnestic, molecular and genetic criteria for Lynch syndromeКлинико-анамнестические и молекулярно-генетические критерии синдрома Линчаhttps://orcid.org/0000-0001-8783-8874SemyanikhinaA. V.СемьянихинаА. В.
Russian Federation

24 Kashirskoe Shosse, Moscow 115478

Александра Владимировна Семьянихина

115478 Москва, Каширское шоссе, 24

alexandra_silina@mail.ruhttps://orcid.org/0000-0001-5255-5065PospekhovaN. I.ПоспеховаН. И.
Russian Federation

24 Kashirskoe Shosse, Moscow 115478

115478 Москва, Каширское шоссе, 24

https://orcid.org/0000-0001-9654-822XFilippovaM. G.ФилипповаМ. Г.
Russian Federation

24 Kashirskoe Shosse, Moscow 115478

115478 Москва, Каширское шоссе, 24

GolovinaD. A.ГоловинаД. А.
Russian Federation

24 Kashirskoe Shosse, Moscow 115478

115478 Москва, Каширское шоссе, 24

https://orcid.org/0000-0002-5565-615XRasulovA. O.РасуловА. О.
Russian Federation

Build. 1, 51 3rd Parkovaya St., Moscow 105425

105425 Москва, 3‑я Парковая ул., 51, стр. 1

https://orcid.org/0000-0003-4775-3299LyubchenkoL. N.ЛюбченкоЛ. Н.
Russian Federation

24 Kashirskoe Shosse, Moscow 115478, 

8–2 Trubetskaya St., Moscow 119 991

115478 Москва, Каширское шоссе, 24, 

119991 Москва, ул. Трубецкая, 8–2

N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of RussiaФГБУ «Национальный медицинский исследовательский центр онкологии им. Н. Н. Блохина» Минздрава РоссииN.A. Lopatkin Research Institute of Urology and Interventional Radiology – branch of National Medical Research Radiological Center, Ministry of Health of the RussiaНИИ урологии и интервенционной радиологии им. Н. А. Лопаткина – филиал ФГБУ «Национальный медицинский исследовательский центр радиологии» Минздрава РоссииI.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of RussiaФГАОУ ВО Первый Московский государственный медицинский университет им. И. М. Сеченова Минздрава России (Сеченовский университет)151220196438461512201915122019Copyright ©; 2019, Semyanikhina A.V., Pospekhova N.I., Filippova M.G., Golovina D.A., Rasulov A.O., Lyubchenko L.N.Copyright ©; 2019, Семьянихина А.В., Поспехова Н.И., Филиппова М.Г., Головина Д.А., Расулов А.О., Любченко Л.Н.2019Semyanikhina A.V., Pospekhova N.I., Filippova M.G., Golovina D.A., Rasulov A.O., Lyubchenko L.N.Семьянихина А.В., Поспехова Н.И., Филиппова М.Г., Головина Д.А., Расулов А.О., Любченко Л.Н.https://creativecommons.org/licenses/by/4.0https://umo.abvpress.ru/jour/article/view/240

Lynch syndrome is the most common cancer-prone syndrome associated with a high risk of colorectal cancer (CRC), neoplasms of the upper gastrointestinal system, the urinary tract, the female reproductive system, brain tumours and others. The only known form of hereditary endometrial cancer is also diagnosed as part of Lynch syndrome. One or more pathogenic germline mutations in one of the mismatch repair (MMR) genes are the cause of Lynch syndrome. Mapping of MMR genes and the discovery of microsatellite instability (MSI) have given rise to the possibility of using these clue characteristics of the pathogenic process for the elaboration of a screening test for Lynch syndrome. Being highly accurate and superior to all previously developed clinical criteria and guidelines, MSI-testing along with the assessment of the expression patterns of MMR proteins by immunohistochemistry has taken the leading role in the early diagnosis of Lynch syndrome. This article focuses on a brief review about the main evolutionary stages of clinical, anamnestic, molecular and genetic criteria for Lynch syndrome together with the results of our own research on the accuracy of the Amsterdam criteria, the Bethesda guidelines and MSI-diagnostics in the determination of the indications for MMR-genotyping in colorectal cancer patients suspected for Lynch syndrome.

Синдром Линча (СЛ) – самый частый наследственный онкологический синдром, ассоциированный с высоким риском развития рака толстой кишки, злокачественных новообразований верхних отделов желудочно-кишечного тракта, мочевыделительной системы, головного мозга, женской репродуктивной системы. В составе СЛ диагностируется единственно известная форма наследственного рака тела матки. Этиологическим фактором развития СЛ являются герминальные мутации в генах системы репарации неправильно спаренных оснований ДНК (DNA mismatch repair (MMR)). Картирование данных генов, а также открытие феномена микросателлитной нестабильности (microsatellite instability, MSI) расширило наши представления о патогенезе линч-ассоциированных опухолей и стало основой для молекулярных скрининговых исследований. Превышая в диагностической точности все разработанные ранее клинические критерии и рекомендации, MSI-тестирование наряду с оценкой экспрессии MMR-белков при иммуногистохимическом исследовании уверенно занимает лидирующее место в ранней диагностике СЛ. В данной статье приведен краткий обзор литературы, отражающий основные эволюционные этапы развития клинико-анамнестических и молекулярногенетических критериев СЛ, а также собственные данные, демонстрирующие точность амстердамских критериев, рекомендаций Бетезда и MSI-диагностики при определении показаний для MMR-генотипирования у больных с формально-генетическим диагнозом рака толстой кишки в составе СЛ.

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