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<article article-type="research-article" dtd-version="1.3" 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" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.1234/XXXX-XXXX-2016-9-29-39</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-170</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ORIGINAL RESEARCH</subject></subj-group></article-categories><title-group><article-title>Генетические аномалии: влияние на эффективность терапии, выживаемость больных множественной миеломой, роль в оценке минимальной остаточной болезни</article-title><trans-title-group xml:lang="en"><trans-title>Genetic anomalies show independent influence on life expectancy of patients at oncological diseases</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гарифуллин</surname><given-names>А. Д.</given-names></name><name name-style="western" xml:lang="en"><surname>Garifullin</surname><given-names>A. D.</given-names></name></name-alternatives><email xlink:type="simple">bloodscience@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Волошин</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Voloshin</surname><given-names>S. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мартынкевич</surname><given-names>И. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Martynkevich</surname><given-names>I. S.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Клеина</surname><given-names>Е. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kleina</surname><given-names>E. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Салогуб</surname><given-names>Г. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Salogub</surname><given-names>G. N.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Карягина</surname><given-names>Е. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Karyagina</surname><given-names>E. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Абдулкадыров</surname><given-names>К. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Abdulkadyrov</surname><given-names>K. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Чечеткин</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Chechetkin</surname><given-names>A. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Федеральное государственное бюджетное учреждение «Российский научно-исследовательский институт гематологии и трансфузиологии Федерального медико-биологического агентства»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Russian Research Institute of Hematology and Transfusiology</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Федеральное государственное бюджетное образовательное учреждение высшего образования «Первый Санкт-Петербургский государственный медицинский университет им. академика И.П. Павлова» Министерства здравоохранения Российской Федерации; Федеральное государственное бюджетное учреждение «Северо-Западный федеральный медицинский исследовательский центр им. В.А. Алмазова» Министерства здравоохранения Российской Федерации</institution><country>Россия</country></aff><aff xml:lang="en"><institution>First Pavlov State Medical University of St. Peterburg; V.A. Almazov Federal North-West Medical Research Centre of the Ministry of Health of the Russian Federation</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Санкт-Петербургское государственное бюджетное учреждение здравоохранения Городская больница №15</institution><country>Россия</country></aff><aff xml:lang="en"><institution>City Hospital N15</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2016</year></pub-date><pub-date pub-type="epub"><day>13</day><month>10</month><year>2016</year></pub-date><volume>15</volume><issue>9</issue><fpage>29</fpage><lpage>39</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Гарифуллин А.Д., Волошин С.В., Мартынкевич И.С., Клеина Е.В., Салогуб Г.Н., Карягина Е.В., Абдулкадыров К.М., Чечеткин А.В., 2016</copyright-statement><copyright-year>2016</copyright-year><copyright-holder xml:lang="ru">Гарифуллин А.Д., Волошин С.В., Мартынкевич И.С., Клеина Е.В., Салогуб Г.Н., Карягина Е.В., Абдулкадыров К.М., Чечеткин А.В.</copyright-holder><copyright-holder xml:lang="en">Garifullin A.D., Voloshin S.V., Martynkevich I.S., Kleina E.V., Salogub G.N., Karyagina E.V., Abdulkadyrov K.V., Chechetkin A.V.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/170">https://www.medgen-journal.ru/jour/article/view/170</self-uri><abstract><p>При ряде онкологических заболеваний генетические аномалии (ГА) демонстрируют самостоятельное влияние на продолжительность жизни больных. В нашем исследовании определена частота встречаемости аномалий генетического аппарата и их прогностический потенциал при множественной миеломе (ММ). Выявление аномалий проводилось стандартным цитогенетическим методом и флуоресцентной гибридизацией in situ (FISH). У пациентов определялись перестройка гена IgH (t(11;14), t(4;14) и др.), del(13)(q14), del(17)(p13.1), аномалии хромосомы 1, гиподиплоидия, гипердиплоидия, сочетанный и комплексный кариотипы. У 57,1% пациентов ГА отсутствовали, а частота встречаемости аномалий хромосомы 1, t(11;14), del(13)(q14), t(4;14), del(17)(p13.1), гипердиплоидии, гиподиплоидии равнялась 28,6%, 20,3%, 18,1%, 6,8%, 5,6%, 3,6 и 2,9% соответственно. Длительность наблюдения составила в среднем 5 лет и показала, что del(17)(p13.1) уменьшала общую выживаемость (ОВ), в то время как t(11;14) не влияла на прогноз. Комплексный кариотип продемонстрировал негативное влияние на показатели выживаемости, в основном, за счет наличия прогностически неблагоприятных ГА (del17p13.1, del13q14, t(4;14), (dup(1q)). Минимальная остаточная болезнь (МОБ) может быть выявлена не только путем многоцветной проточной цитометрии (ПЦ), но и генетическими методами исследований, направленными на выявление ранее обнаруженных ГА.</p></abstract><trans-abstract xml:lang="en"><p>Genetic anomalies: the influence on efficiency of therapy, survival of patients with multiple myeloma, a role in assessment of minimal residual disease. In our research the frequency of occurrence of genetic anomalies and their predictive potential at multiple myeloma is determined. Detection of anomalies was carried out by standard cytogenetic method and fluorescent in situ hybridization (FISH). IgH reorganization (t(11;14), t(4;14), etc.), del(13)(q14), del(17)(p13.1), anomalies of 1 chromosome, hypodiploidy, hyperdiploidy, combined and complex karyotypes decided at patients with multiple myeloma. Genetic anomalies were detected in 57.1% of patients, the frequency of occurrence of anomalies of 1 chromosome, t(11;14), del(13)(q14), t(4;14), del(17)(p13.1), hyperdiploidy, hypodiploidy - in 28.6%, 20.3%, 18.1%, 6.8%, 5.6%, 3.6 and 2.9%, respectively. Duration of observation has averaged 5 years and has shown that del17p13.1 reduced overall survival, t(11;14) didn’t influence the forecast. The complex karyotype has shown negative impact on survival indicators, generally due to existence predictively of adverse anomalies (del(17)(p13.1), del(13)(q14), t(4;14), (+1q)). The Minimal Residual Disease can be revealed by means of flow cytometry and also genetic methods of researches directed to identification of earlier defined anomalies.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>множественная миелома</kwd><kwd>генетические аномалии</kwd><kwd>минимальная остаточная болезнь</kwd><kwd>флуоресцентная in situ гибридизация</kwd><kwd>общая выживаемость</kwd><kwd>беспрогрессивная выживаемость</kwd><kwd>multiple myeloma</kwd><kwd>genetic anomalies</kwd><kwd>minimal residual disease</kwd><kwd>fluorescence in situ hybridization</kwd><kwd>overall survival</kwd><kwd>progression-free survival</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Гематология: Новейший справочник. Санкт-Петербург: Изд-во Сова; 2004. 928 с.</mixed-citation><mixed-citation xml:lang="en">Гематология: Новейший справочник. 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