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<article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="other" dtd-version="1.2" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">Cancer Urology</journal-id><journal-title-group><journal-title xml:lang="en">Cancer Urology</journal-title><trans-title-group xml:lang="ru"><trans-title>Онкоурология</trans-title></trans-title-group></journal-title-group><issn publication-format="print">1726-9776</issn><issn publication-format="electronic">1996-1812</issn><publisher><publisher-name xml:lang="en">Publishing House ABV Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">602</article-id><article-id pub-id-type="doi">10.17650/1726-9776-2016-12-4-16-20</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>DIAGNOSIS AND TREATMENT OF URINARY SYSTEM TUMORS. RENAL CANCER</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>ДИАГНОСТИКА И ЛЕЧЕНИЕ ОПУХОЛЕЙ МОЧЕПОЛОВОЙ СИСТЕМЫ. Рак почки</subject></subj-group><subj-group subj-group-type="article-type"><subject></subject></subj-group></article-categories><title-group><article-title xml:lang="en">Molecular genetic diagnostics of clear cell renal cell carcinoma</article-title><trans-title-group xml:lang="ru"><trans-title>Молекулярно-генетическая диагностика светлоклеточного почечно-клеточного рака</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Apanovich</surname><given-names>N. V.</given-names></name><name xml:lang="ru"><surname>Апанович</surname><given-names>Н. В.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>1 Moskvorech’e St., Moscow 115478</p></bio><bio xml:lang="ru"><p>115478 Москва, ул. Москворечье, 1</p></bio><email>karpukhin@med-gen.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Peters</surname><given-names>M. V.</given-names></name><name xml:lang="ru"><surname>Петерс</surname><given-names>М. В.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>24 Kashirskoe Shosse, Moscow 115478</p></bio><bio xml:lang="ru"><p>115478 Москва, Каширское шоссе, 24</p></bio><email>rmapo@rmapo.ru</email><xref ref-type="aff" rid="aff2"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Korotaeva</surname><given-names>A. A.</given-names></name><name xml:lang="ru"><surname>Коротаева</surname><given-names>А. А.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>1 Moskvorech’e St., Moscow 115478</p></bio><bio xml:lang="ru"><p>115478 Москва, ул. Москворечье, 1</p></bio><email>karpukhin@med-gen.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Apanovich</surname><given-names>P. V.</given-names></name><name xml:lang="ru"><surname>Апанович</surname><given-names>П. В.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>1 Moskvorech’e St., Moscow 115478</p></bio><bio xml:lang="ru"><p>115478 Москва, ул. Москворечье, 1</p></bio><email>karpukhin@med-gen.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Markova</surname><given-names>A. S.</given-names></name><name xml:lang="ru"><surname>Маркова</surname><given-names>А. С.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>24 Kashirskoe Shosse, Moscow 115478</p></bio><bio xml:lang="ru"><p>115478 Москва, Каширское шоссе, 24</p></bio><email>mark-an1@yandex.ru</email><xref ref-type="aff" rid="aff2"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Kamolov</surname><given-names>B. Sh.</given-names></name><name xml:lang="ru"><surname>Камолов</surname><given-names>Б. Ш.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>24 Kashirskoe Shosse, Moscow 115478</p></bio><bio xml:lang="ru"><p>115478 Москва, Каширское шоссе, 24</p></bio><email>kamolov@mail.ru</email><xref ref-type="aff" rid="aff2"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Matveev</surname><given-names>V. B.</given-names></name><name xml:lang="ru"><surname>Матвеев</surname><given-names>В. Б.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>24 Kashirskoe Shosse, Moscow 115478;</p><p>Department of Fundamental Medicine, build. 5, 31 Lomonosovskiy Prospekt, Moscow 119192</p></bio><bio xml:lang="ru"><p>115478 Москва, Каширское шоссе, 24;</p><p>факультет фундаментальной медицины, 119192 Москва, Ломоносовский проспект, 31, корп. 5</p></bio><email>vsevolodmatveev@mail.ru</email><xref ref-type="aff" rid="aff2"/><xref ref-type="aff" rid="aff3"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Karpukhin</surname><given-names>A. V.</given-names></name><name xml:lang="ru"><surname>Карпухин</surname><given-names>А. В.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>1 Moskvorech’e St., Moscow 115478</p></bio><bio xml:lang="ru"><p>115478 Москва, ул. Москворечье, 1</p></bio><email>karpukhin@med-gen.ru</email><xref ref-type="aff" rid="aff1"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="en">Research Center for Medical Genetics</institution></aff><aff><institution xml:lang="ru">ФГБНУ «Медико-генетический научный центр»</institution></aff></aff-alternatives><aff-alternatives id="aff2"><aff><institution xml:lang="en">N.N. Blokhin Russian Cancer Research Center, Ministry of Health of Russia</institution></aff><aff><institution xml:lang="ru">ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России</institution></aff></aff-alternatives><aff-alternatives id="aff3"><aff><institution xml:lang="en">M.V. Lomonosov Moscow State University</institution></aff><aff><institution xml:lang="ru">ФГОУ ВО «Московский государственный университет им. М.В. Ломоносова»</institution></aff></aff-alternatives><pub-date date-type="pub" iso-8601-date="2016-12-30" publication-format="electronic"><day>30</day><month>12</month><year>2016</year></pub-date><volume>12</volume><issue>4</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><fpage>16</fpage><lpage>20</lpage><history><date date-type="received" iso-8601-date="2016-08-30"><day>30</day><month>08</month><year>2016</year></date><date date-type="accepted" iso-8601-date="2016-09-09"><day>09</day><month>09</month><year>2016</year></date></history><permissions><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/></permissions><self-uri xlink:href="https://oncourology.abvpress.ru/oncur/article/view/602">https://oncourology.abvpress.ru/oncur/article/view/602</self-uri><abstract xml:lang="en"><p><bold>Background.</bold> On the pace of growth in Russia, renal carcinoma takes the 1st place. Approximately one third of patients at time of diagnosis have distant metastases, and relapse of the disease occurs in 30–40 %. Renal carcinoma does not manifest until later stage of the disease. More than in 50 % of cases renal carcinoma is revealed occasionally. Therefore, development of methods for quick and efficient diagnosis of the tumor is actual.</p><p><bold>Materials and methods.</bold> The level of messenger RNA expression for several genes was studied in the surgical material of paired samples (normal tissue and a malignant renal carcinoma). Quantification of gene expression was performed by using real-time polymerase chain reaction on Step One Plus instrument (Applied Biosystems, USA) by using TaqMan® Gene Expression Assays kits (Applied Biosystems, USA).</p><p><bold>Results.</bold> As a result of screening analysis of 200 genes expression in paired samples of renal carcinoma/normal renal tissue we selected 5 genes showing the highest frequency of increased expression in stages I–III of the development of clear renal cell carcinoma: CA9, EGLN3, HIG2, NDUFA4L2, STC2.</p><p><bold>Conclusion.</bold> As a result of the expression study we developed a new panel, including CA9, HIG2 and STC2 genes which has high sensitivity (96.8 %) and specificity (92.9 %) for differential diagnosis of the early clear cell renal cell carcinoma on the basis of determining the level of messenger RNA expression by real-time polymerase chain reaction. This approach allows you to diagnose clear cell renal cell carcinoma quickly (within 1 day), and differentiate it from other types of renal cell cancer. In addition, it opens the possibility of non-invasive diagnosis of renal carcinoma in the future.</p></abstract><trans-abstract xml:lang="ru"><p><bold>Введение.</bold> По темпу прироста в России рак почки занимает 1-е место. Примерно у трети больных к моменту постановки диагноза выявляют отдаленные метастазы, и у 30–40 % возникает рецидив болезни. Рак почки не проявляется симптоматически до поздней стадии заболевания. Более чем в 50 % случаев рак почки обнаруживают случайно. В связи с этим актуально развитие методов, позволяющих быстро и эффективно диагностировать опухоль.</p><p><bold>Материалы и методы.</bold> Было проведено изучение уровней экспрессии матричной РНК ряда генов в операционном материале парных образцов (нормальная ткань и злокачественная опухоль почки). Количественное определение экспрессии генов осуществляли с помощью полимеразной цепной реакции в реальном времени на приборе Step One Plus (Applied Biosystems, США) с использованием наборов TaqMan® Gene Expression Assays (Applied Biosystems, США).</p><p><bold>Результаты.</bold> По результатам скринингового анализа экспрессии 200 генов в парных образцах рак почки/нормальная ткань почки выбраны 5 генов, демонстрирующих наибольшую частоту повышенной экспрессии на I–III стадиях развития светлоклеточного почечно-клеточного рака: CA9, EGLN3, HIG2, NDUFA4L2, STC2.</p><p><bold>Заключение.</bold> По результатам проведенного исследования экспрессии разработана новая панель, включающая гены CA9, HIG2 и STC2, которая дает возможность с высокой чувствительностью (96,8 %) и специфичностью (92,9 %) дифференциально диагностировать ранний светлоклеточный рак почки на основе определения уровня матричной РНК методом полимеразной цепной реакции в реальном времени. Такой подход позволяет быстро (в течение 1 дня) диагностировать светлоклеточный почечно-клеточный рак, отличая его отдругих типов почечно-клеточного рака. Кроме этого, он открывает возможность неинвазивной диагностики рака почки в дальнейшем.</p></trans-abstract><kwd-group xml:lang="en"><kwd>clear cell renal cell carcinoma</kwd><kwd>molecular genetic diagnostics</kwd><kwd>differential gene expression</kwd></kwd-group><kwd-group xml:lang="ru"><kwd>светлоклеточный почечно-клеточный рак</kwd><kwd>молекулярно-генетическая диагностика</kwd><kwd>дифференциальная экспрессия генов</kwd></kwd-group><funding-group/></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><citation-alternatives><mixed-citation xml:lang="en">1. Статистика злокачественных новообразований в России и странах СНГ в 2012 г. Под ред. М.И. Давыдова, Е.М. Аксель. М.: Издательская группа РОНЦ, 2014. 226 с. [Statistics of malignant tumors in Russia and CIS countries in 2012. Eds. by: М.I. 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