Cancer UrologyCancer UrologyОнкоурология1726-97761996-1812Publishing House ABV Press56910.17650/1726-9776-2016-12-3-14-21DIAGNOSIS AND TREATMENT OF URINARY SYSTEM TUMORS. RENAL CANCERДИАГНОСТИКА И ЛЕЧЕНИЕ ОПУХОЛЕЙ МОЧЕПОЛОВОЙ СИСТЕМЫ. Рак почкиGenetic characteristics of the non-clear cell renal cancerГенетические особенности несветлоклеточного рака почкиMikhaylenkoD. S.МихайленкоД. С.
Russian Federation

51/4 3rd Parkovaya St., Moscow, 105425

1 Moskvorech’e St., Moscow, 115478

105425, Москва, ул. 3-я Парковая, 51/4

115478, Москва, ул. Москворечье, 1 

к.м.н., доц., ведущий научный сотрудник отдела патологической анатомии с группой молекулярной генетики НИИ урологии и интервенционной радиологии им. Н.А. Лопаткина

dimserg@mail.ruAlekseevB. Y.АлексеевБ. Я.
Russian Federation

51/4 3rd Parkovaya St., Moscow, 105425

105425, Москва, ул. 3-я Парковая, 51/4

д.м.н., проф., заместитель генерального директора по научной работе ФГБУ "НМИРЦ" Минздрава России

byalekseev@mail.ruEfremovG. D.ЕфремовГ. Д.
Russian Federation

51/4 3rd Parkovaya St., Moscow, 105425

105425, Москва, ул. 3-я Парковая, 51/4

к.м.н., заведующий отделом патологической анатомии с группой молекулярной генетики НИИ урологии и интервенционной радиологии им. Н.А. Лопаткина

efremov.gen@yandex.ruKaprinA. D.КапринА. Д.
Russian Federation

51/4 3rd Parkovaya St., Moscow, 105425

105425, Москва, ул. 3-я Парковая, 51/4

член-корр. РАН, д.м.н., проф., генеральный директор ФГБУ "НМИРЦ" Минздрава России

info@mnioi.ruN.A. Lopatkin Research Institute of Urology and Interventional Radiology – branch of the National Medical Research Radiological Center of the Ministry of Health of RussiaНИИ урологии и интервенционной радиологии им. Н.А. Лопаткина - филиал ФГБУ "НМИРЦ" Минздрава РоссииResearch Centre for Medical GeneticsФГБНУ "Медико-генетический научный центр"3009201612314211606201614072016https://oncourology.abvpress.ru/oncur/article/view/569

Renal cancer (RC) is one of the most frequent diseases in oncological urology; the most common form of RC is the clear cell carcinoma. However, percentage of less-studied non-clear cell RC (nccRC) reaches up to 25 % of cases suggesting further studying, improvement of diagnosis and treatment of these tumors. The key events of carcinogenesis are genetic alterations including chromosomal aberrations and point mutations in proto-oncogenes and tumor suppressor genes. This review describes cytogenetic aberrations in the context of nccRC diversity according to the current ISUP classification. Translocation variants of nccRC (MiT-RC) were characterized separately as particular cases of the chromosome rearrangements involving MiT gene family (TFE3, TFEB, MITF). In addition, the main nccRC hereditary forms caused by germinal mutations in the genes FLCN, FH, and MET, as well as recent studies of sporadic tumors with using the next generation sequencing techniques were reviewed. These experiments were designed to search for somatic mutations throughout the tumor genome or exom and revealed the different mutational profiles of I/II papillary RC subtypes, chromophobe carcinoma versus oncocytoma. The review may be informative for oncologists, urologists, geneticists and specialists in related sciences. 

Рак почки (РП) входит в число частых онкоурологических заболеваний, самой распространенной формой которого является светлоклеточная карцинома. Однако доля менее изученных несветлоклеточных вариантов РП (НСРП) составляет до 25% случаев заболевания, что говорит о необходимости их исследования, совершенствования диагностики и лечения. В основе канцерогенеза лежат генетические изменения, включающие хромосомные аберрации и точковые мутации в протоонкогенах и генах-супрессорах. В обзоре рассмотрены цитогенетические аберрации в контексте разнообразия форм НСРП согласно действующей классификации ISUP. Отдельно охарактеризованы транслокационные варианты НСРП (MiT-РП) как частные случаи хромосомных перестроек с вовлечением генов семейства MiT: TFE3, TFEB, MITF. Описаны основные наследственные формы НСРП, обусловленные герминальными мутациями в генах FLCN, FH и МЕТ, а также современные исследования спорадических опухолей с применением секвенирования следующего поколения. Эти эксперименты были направлены на поиск соматических мутаций в масштабах всего генома или экзома опухоли и позволили определить различные мутационные профили I/II подтипов папиллярного РП, хромофобной карциномы в сравнении с онкоцитомой. Обзор может представлять интерес для онкологов, урологов, генетиков и специалистов смежных наук.

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