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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">Bone and soft tissue sarcomas, tumors of the skin</journal-id><journal-title-group><journal-title xml:lang="en">Bone and soft tissue sarcomas, tumors of the skin</journal-title><trans-title-group xml:lang="ru"><trans-title>Саркомы костей, мягких тканей и опухоли кожи</trans-title></trans-title-group></journal-title-group><issn publication-format="print">2219-4614</issn><issn publication-format="electronic">2782-3687</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">243</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>Articles</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>Статьи</subject></subj-group><subj-group subj-group-type="article-type"><subject></subject></subj-group></article-categories><title-group><article-title xml:lang="en">PRIMARY GENETICALLY ALTERED ANGIOSARCOMAS OF THE BREAST IN FEMALE TWINS. CASE REPORT</article-title><trans-title-group xml:lang="ru"><trans-title>Первичные
генетически обусловленные ангиосаркомы молочных желез у близ
нецовой пары. Клинический случай</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><name><surname>Будик</surname><given-names>Ю. А.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Любченко</surname><given-names>ЯМ. ..</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Анурова</surname><given-names>О. А.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Феденко</surname><given-names>А. А.</given-names></name><address><country country="RU">Russian Federation</country></address><email>fedenko@eesg.ru</email></contrib><contrib contrib-type="author"><name><surname>Соболевский</surname><given-names>В. А.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Семьянихина</surname><given-names>А. В.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Поспехова</surname><given-names>Н. И.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Истомин</surname><given-names>И. А.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>A</surname><given-names>B. ..</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Lyubchenko</surname><given-names>L. N.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Anurova</surname><given-names>O. A.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Fedenko</surname><given-names>A. A.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Sobolevsky</surname><given-names>V. A.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Semyanihina</surname><given-names>A. V.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Pospekhova</surname><given-names>N. I.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib><contrib contrib-type="author"><name><surname>Istomin</surname><given-names>I. A.</given-names></name><address><country country="RU">Russian Federation</country></address></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="ru">Российский онкологический научный центр имени Н.Н. Блохина РАМН</institution></aff><aff><institution xml:lang="en">N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences</institution></aff></aff-alternatives><pub-date date-type="pub" iso-8601-date="2011-07-11" publication-format="electronic"><day>11</day><month>07</month><year>2011</year></pub-date><volume>3</volume><issue>3</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><fpage>66</fpage><lpage>74</lpage><history><date date-type="received" iso-8601-date="2022-01-11"><day>11</day><month>01</month><year>2022</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 2011, ., ., ., ., ., ., ., ., A B..., Lyubchenko L.N., Anurova O.A., Fedenko A.A., Sobolevsky V.A., Semyanihina A.V., Pospekhova N.I., Istomin I.A.</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 2011, Будик Ю.А., Любченко Я..., Анурова О.А., Феденко А.А., Соболевский В.А., Семьянихина А.В., Поспехова Н.И., Истомин И.А., A B., Lyubchenko L., Anurova O., Fedenko A., Sobolevsky V., Semyanihina A., Pospekhova N., Istomin I.</copyright-statement><copyright-year>2011</copyright-year><copyright-holder xml:lang="en">., ., ., ., ., ., ., ., A B..., Lyubchenko L.N., Anurova O.A., Fedenko A.A., Sobolevsky V.A., Semyanihina A.V., Pospekhova N.I., Istomin I.A.</copyright-holder><copyright-holder xml:lang="ru">Будик Ю.А., Любченко Я..., Анурова О.А., Феденко А.А., Соболевский В.А., Семьянихина А.В., Поспехова Н.И., Истомин И.А., A B., Lyubchenko L., Anurova O., Fedenko A., Sobolevsky V., Semyanihina A., Pospekhova N., Istomin I.</copyright-holder><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/><license><ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">https://creativecommons.org/licenses/by/4.0</ali:license_ref></license></permissions><self-uri xlink:href="https://sarbon.abvpress.ru/jour/article/view/243">https://sarbon.abvpress.ru/jour/article/view/243</self-uri><abstract xml:lang="en"><p>Soft tissue sarcomas are rare malignant tumors. Primary angiosarcomas of the breast account about 0, 04% of all malignant breast tumor cases. We present the case report of simultaneous development of primary angiosarcoma of the breast in the in 22 years old twins. The histological examination of the core biopsy specimen revealed the evidence of angiosarcoma. Each of the patients were treated with combined therapy. In one of the sisters, the tumor mass occupied almost the entire breast, wherefore the first phase Chemotherapy (CT) was administered 5 cycles of gemcitabine and docetaxel. Subsequently the mastectomy with simultaneous breast reconstruction was performed on the right side. Postoperatively another 3 cycles of CT were carried out according to the above described regimen. In the second patient, due to the small tumor size (less than 5cm), the skin-repairing mastectomy with simultaneous breast reconstruction was performed. 6 courses of adjuvant CT was given according to the specified regimen. The genomic analysis of both patients, revealed the germline mutation A518A (C.1782A/T) in the exone-10 and the polymorphism V269V (c.4035T/C) in the exone-11 of the BRCA2-genes. In addition, the polymorphism Int3dupl6 was found in the third introne of the TP53-gene. The same mutation (A518A (C.1782A/T) was also detected in the twin's father. There was no PD after the 12 months of follow-up.</p></abstract><trans-abstract xml:lang="ru"><p>Саркомы мягких тканей - редкие злокачественные новообразования. Первичные ангиосаркомы молочной железы составляют около 0,04% от всех злокачественных опухолей молочной железы. Мы приводим клинический случай синхронного развития первичных ангиосарком молочных желез у близнецовой пары 22 лет. Диагноз установлен при гистологическом исследовании после выполнения биопсии опухоли. Пациентки получили комбинированное лечение. У одной из сестер опухоль занимала всю молочную железу, поэтому на первом этапе было проведено 5 курсов химиотерапии (XT) гемцитабином и доцетакселом. Затем выполнена мастэктомия справа с одномоментной реконструкцией. В послеоперационном периоде проведено еще 3 курса XT по описанной схеме. У второй пациентки в связи с размерами опухоли менее 5 см на первом этапе выполнена мастэктомия слева с сохранением кожи с одномоментной реконструкцией. Адъювантно проведено 6 курсов XT по описанной схеме. При исследовании ДНК у обеих пациенток выявлены наследуемые: герминальная мутация <italic>А518А </italic>(с.1782А/Т) в 10-м экзоне гена <italic>BRCA2, </italic>полиморфный вариант V269V (с.4035Т/С) в 11-м экзоне гена <italic>BRCA2, </italic>полиморфный гаплотип в гетерозиготном состоянии в гене <italic>BRCA1. </italic>В гене <italic>ТР53 </italic>выявлен полиморфный вариант Int3dupl6 в 3-м интроне в гетерозиготном состоянии. У отца пациенток-близнецов в гене <italic>BRCA2 </italic>обнаружена мутация <italic>А518А. </italic>Пациентки прослежены в течение 12 мес без признаков прогрессирования</p></trans-abstract><kwd-group xml:lang="en"><kwd><italic>BRCA1</italic></kwd><kwd><italic>BRCA2</italic></kwd><kwd><italic>ТР53</italic></kwd></kwd-group><kwd-group xml:lang="ru"><kwd>ангиосаркома молочной железы</kwd><kwd>первичная ангиосаркома</kwd></kwd-group></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><mixed-citation>Давыдов М.И., Аксель Е.М. Вестник РОНЦ. Том 20, №3 (77), прил. 1. Июль - сентябрь 2009 г. 58 с.</mixed-citation></ref><ref id="B2"><label>2.</label><mixed-citation>Katrina N. Glazebrook, Maureen J., Magut Carol Reynolds. Angiosarcoma of the Breast AJR: 190, February 2008.</mixed-citation></ref><ref id="B3"><label>3.</label><mixed-citation>Yang W.T., Hennessy B.T., Dryden M. J., Valero V., Hunt К.К., Krishnamurthy S. Mammary angiosarcomas: imaging findings in 24 patients. Radiology. 2007, v. 242, p. 725-734.</mixed-citation></ref><ref id="B4"><label>4.</label><mixed-citation>West J.G., Jeffrey N. Weitzel, May Lin Tao, Michele Carpenter et al. BRCA-mutations and the risk of angiosarcoma after breast cancer treatment. Clinical Breast Cancer. 2008, v. 8, No. 6, p. 533-537.</mixed-citation></ref><ref id="B5"><label>5.</label><mixed-citation>Evans D.G., Wu C.L., Birch J.M. BRCA2: a cause of Li-Fraumenilike Syndrome. J. Med. Genet. January. 2008, v 45, No. 1.</mixed-citation></ref><ref id="B6"><label>6.</label><mixed-citation>Manoukiaa S., Peissel В., Pensottib V. et al. Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families. European journal of cancer. 4.3. 2007, p. 601-606.</mixed-citation></ref><ref id="B7"><label>7.</label><mixed-citation>www.iarc.fr </mixed-citation></ref><ref id="B8"><label>8.</label><mixed-citation>www.nhgri.nih.gov </mixed-citation></ref></ref-list></back></article>
