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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">Pediatric Hematology/Oncology and Immunopathology</journal-id><journal-title-group><journal-title xml:lang="en">Pediatric Hematology/Oncology and Immunopathology</journal-title><trans-title-group xml:lang="ru"><trans-title>Вопросы гематологии/онкологии и иммунопатологии в педиатрии</trans-title></trans-title-group></journal-title-group><issn publication-format="print">1726-1708</issn><issn publication-format="electronic">2414-9314</issn><publisher><publisher-name xml:lang="en">Fund Doctors, Innovations, Science for Children</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">954</article-id><article-id pub-id-type="doi">10.24287/1726-1708-2025-24-1-106-115</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>ORIGINAL ARTICLES</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>ОРИГИНАЛЬНЫЕ СТАТЬИ</subject></subj-group><subj-group subj-group-type="article-type"><subject></subject></subj-group></article-categories><title-group><article-title xml:lang="en">Leukemia with L3 morphology: cytogenetic characterization and diagnostic challenges</article-title><trans-title-group xml:lang="ru"><trans-title>Лейкозы с морфологией L3: цитогенетическая характеристика и некоторые сложности диагностики</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-6271-7435</contrib-id><name-alternatives><name xml:lang="en"><surname>Konyukhova</surname><given-names>T. V.</given-names></name><name xml:lang="ru"><surname>Конюхова</surname><given-names>Т. В.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Moscow</p></bio><bio xml:lang="ru"><p>Конюхова Татьяна Владимировна</p><p>Москва</p></bio><email>Tatiana.konyuhova@dgoi.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0006-4002-9678</contrib-id><name-alternatives><name xml:lang="en"><surname>Gezik</surname><given-names>P. A.</given-names></name><name xml:lang="ru"><surname>Гезик</surname><given-names>П. А.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Moscow</p></bio><bio xml:lang="ru"><p>Полина Алексеевна Гезик</p><p>Москва</p></bio><email>polina.gezik@gmail.com</email><xref ref-type="aff" rid="aff2"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-7755-0228</contrib-id><name-alternatives><name xml:lang="en"><surname>Soldatkina</surname><given-names>O. I.</given-names></name><name xml:lang="ru"><surname>Солдаткина</surname><given-names>О. И.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Moscow</p></bio><bio xml:lang="ru"><p>Ольга Ивановна Солдаткина</p><p>Москва</p></bio><email>olga.soldatkina@dgoi.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0004-5464-3818</contrib-id><name-alternatives><name xml:lang="en"><surname>Kozeev</surname><given-names>V. A.</given-names></name><name xml:lang="ru"><surname>Козеев</surname><given-names>В. А.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Moscow</p></bio><bio xml:lang="ru"><p>Владимир Андреевич Козеев</p><p>Москва</p></bio><email>Vladimir.Kozeev@dgoi.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-1085-4646</contrib-id><name-alternatives><name xml:lang="en"><surname>Kazakova</surname><given-names>A. N.</given-names></name><name xml:lang="ru"><surname>Казакова</surname><given-names>А. Н.</given-names></name></name-alternatives><bio xml:lang="en"><p>Moscow</p></bio><bio xml:lang="ru"><p>Анна Николаевна Казакова</p><p>Москва</p></bio><email>anna.kazakova@dgoi.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0889-6986</contrib-id><name-alternatives><name xml:lang="en"><surname>Popov</surname><given-names>A. M.</given-names></name><name xml:lang="ru"><surname>Попов</surname><given-names>А. М.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Moscow</p></bio><bio xml:lang="ru"><p>Александр Михайлович Попов</p><p>Москва</p></bio><email>uralcytometry@gmail.com</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-4503-0735</contrib-id><name-alternatives><name xml:lang="en"><surname>Plyasunova</surname><given-names>S. A.</given-names></name><name xml:lang="ru"><surname>Плясунова</surname><given-names>С. А.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Moscow</p></bio><bio xml:lang="ru"><p>Светлана Александровна Плясунова</p><p>Москва</p></bio><email>Svetlana.Plyasunova@dgoi.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-4779-1896</contrib-id><name-alternatives><name xml:lang="en"><surname>Myakova</surname><given-names>N. V.</given-names></name><name xml:lang="ru"><surname>Мякова</surname><given-names>Н. В.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Moscow</p></bio><bio xml:lang="ru"><p>Наталья Валерьевна Мякова</p><p>Москва</p></bio><email>nmiakova@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-2352-7716</contrib-id><name-alternatives><name xml:lang="en"><surname>Olshanskaya</surname><given-names>Yu. V.</given-names></name><name xml:lang="ru"><surname>Ольшанская</surname><given-names>Ю. В.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Moscow</p></bio><bio xml:lang="ru"><p>Юлия Вячеславовна Ольшанская</p><p>Москва</p></bio><email>Yuliya.Olshanskaya@dgoi.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-9670-3728</contrib-id><name-alternatives><name xml:lang="en"><surname>Rumyantseva</surname><given-names>Yu. V.</given-names></name><name xml:lang="ru"><surname>Румянцева</surname><given-names>Ю. В.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Moscow</p></bio><bio xml:lang="ru"><p>Юлия Васильевна Румянцева</p><p>Москва</p></bio><email>j.roumiantseva@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-9634-5828</contrib-id><name-alternatives><name xml:lang="en"><surname>Zerkalenkova</surname><given-names>E. A.</given-names></name><name xml:lang="ru"><surname>Зеркаленкова</surname><given-names>Е. А.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Elena A. Zerkalenkova - Cand. Bio. Sci., senior researcher at the Laboratory of Cytogenetics and Molecular Genetics.</p><p>1 Samory Mashela St., 117997, Moscow</p></bio><bio xml:lang="ru"><p>Зеркаленкова Елена Александровна - канд. биол. наук, старший научный сотрудник лаборатории цитогенетики и молекулярной генетики</p><p>117997, Москва, ул. Саморы Машела, 1</p></bio><email>eazerkalenkova@gmail.com</email><xref ref-type="aff" rid="aff1"/><xref ref-type="aff" rid="aff3"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="en">The Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation</institution></aff><aff><institution xml:lang="ru">ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России</institution></aff></aff-alternatives><aff-alternatives id="aff2"><aff><institution xml:lang="en">The I.M. Sechenov First Moscow State Medical University of Ministry of Healthcare of Russia</institution></aff><aff><institution xml:lang="ru">ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России</institution></aff></aff-alternatives><aff-alternatives id="aff3"><aff><institution xml:lang="en">The N.I. Pirogov Russian National Research Medical University of Ministry of Healthcare of Russia</institution></aff><aff><institution xml:lang="ru">ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России</institution></aff></aff-alternatives><pub-date date-type="pub" iso-8601-date="2025-04-08" publication-format="electronic"><day>08</day><month>04</month><year>2025</year></pub-date><volume>24</volume><issue>1</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><fpage>106</fpage><lpage>115</lpage><history><date date-type="received" iso-8601-date="2025-01-30"><day>30</day><month>01</month><year>2025</year></date><date date-type="accepted" iso-8601-date="2025-02-04"><day>04</day><month>02</month><year>2025</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 2025, «D. Rogachev NMRCPHOI»</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 2025, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="en">«D. Rogachev NMRCPHOI»</copyright-holder><copyright-holder xml:lang="ru">ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России</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://hemoncim.com/jour/article/view/954">https://hemoncim.com/jour/article/view/954</self-uri><abstract xml:lang="en"><p>Burkitt lymphoma/leukemia (BL) is a highly aggressive B-cell non-Hodgkin lymphoma with a strong predilection for extranodal involvement and frequent multi-organ dissemination. When the bone marrow is affected, BL is typically characterized by three key signs: L3 morphology as defined by the French-American-British classification, a MYC gene rearrangement, and a mature immunophenotype with surface immunoglobulin expression as confirmed by flow cytometry. However, in some BL cases, some of these features may be absent. Here, we studied a correlation between L3 morphology and the presence of MYC gene rearrangements in the bone marrow. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation. Out of the 127 patients with L3 morphology, 89.8% (n = 114) harbored MYC rearrangements, while in the patients with L1/L2 morphology such rearrangements were extremely rare (0.1%; 2 out of 2049). We identified the following MYC rearrangements: t(8;14)(q24;q32)/IGH::MYC (91.2%; n = 104), t(8;22)(q24;q11)/IGK::MYC (7.0%; n = 8), t(2;8)(p12;q24)/IGL::MYC (1%; n = 1), and t(8;14)(q24;q32)/IGH::MYC combined with t(14;18)(q32;q21)/IGH::BCL2 (n = 1). At the same time, 13 patients with L3 morphology did not have MYC rearrangements. Among these cases, 69.2% (n = 9) of patients harbored other chromosomal aberrations commonly associated with B-lineage acute lymphoblastic leukemia, including rearrangements involving the KMT2A and ETV6 genes and IGH locus, as well as hyperdiploidy and hypodiploidy. According to the findings of the initial analysis of cytogenetic samples using the fluorescence in situ hybridization (FISH) method, 23.6% (n = 25) of the MYC-positive cases either did not have abnormal cells or had a minimal amount. In such cases, MYC positivity was reliably confirmed by FISH performed on morphological samples with established blastosis. Notably, the percentage of blast cells varied significantly among the MYC-positive samples depending on the puncture site, which can potentially lead to false negative cytogenetic results. However, this variation was much lower in other genetic alterations such as hyperdiploidy, KMT2A rearrangements, and t(12;21)(p13;q22)/ETV6::RUNX1. Therefore, if there are any discrepancies between the results of morphological and cytogenetic analyses, it is recommended to perform additional testing using morphological smears with previously confirmed blastosis with L3 morphology.</p></abstract><trans-abstract xml:lang="ru"><p>Лимфома/лейкоз Беркитта (ЛБ) – высокоагрессивная В-клеточная неходжкинская лимфома с преимущественно экстранодальной локализацией и частым поражением нескольких систем органов. Как правило, при поражении костного мозга ЛБ характеризуется триадой диагностических признаков: морфологический вариант L3 по франко-американо-британской классификации (French-American-British classification), наличие перестройки гена <italic>MYC</italic> и соответствие зрелому иммунофенотипу с экспрессией поверхностных иммуноглобулинов по данным проточной цитометрии. Однако в ряде случаев ЛБ часть данных признаков отсутствует. В данном исследовании оценивалось соответствие L3-морфологии и наличия перестроек гена <italic>MYC</italic> в костном мозге. Исследование одобрено независимым этическим комитетом и утверждено решением ученого совета ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России. Среди 127 пациентов с L3-морфологией в 89,8% случаев (<italic>n</italic> = 114) были выявлены перестройки гена <italic>MYC</italic>, тогда как при L1-/L2-морфологии они встречались крайне редко (0,1%; 2 из 2049). Были определены следующие виды перестроек гена <italic>MYC</italic>: t(8;14)(q24;q32)/<italic>IGH::MYC</italic> (91,2%; <italic>n</italic> = 104), t(8;22)(q24;q11)/ <italic>IGK::MYC</italic> (7,0%; <italic>n</italic> = 8), t(2;8)(p12;q24)/<italic>IGL::MYC</italic> (1%; <italic>n</italic> = 1), а также t(8;14)(q24;q32)/<italic>IGH::MYC</italic> в сочетании с t(14;18)(q32;q21)/<italic>IGH::BCL2 </italic>(<italic>n </italic>= 1). У 13 пациентов с L3-морфологией перестройки гена <italic>MYC</italic> отсутствовали. В 69,2% случаев (<italic>n</italic> = 9) обнаружены другие хромосомные аберрации, характерные для В-линейного острого лимфобластного лейкоза, включая перестройки генов <italic>KMT2A</italic>, <italic>ETV6</italic>, локуса <italic>IGH</italic>, а также гипердиплоидию и гиподиплоидию. Кроме того, установлено, что среди <italic>MYC</italic>-позитивных случаев в 23,6% (<italic>n</italic> = 25) первичный анализ цитогенетического материала методом флуоресцентной гибридизации <italic>in situ </italic>(fluorescence<italic> in situ</italic> hybridization, FISH) не выявил патологических клеток или показал их минимальное количество. В таких образцах наличие <italic>MYC-</italic>позитивности было достоверно подтверждено методом FISH на морфологических препаратах с доказанным бластозом. Анализ уровня бластных клеток в зависимости от точки пункции продемонстрировал значительный разброс в <italic>MYC</italic>-позитивных образцах, что может приводить к ложнонегативным результатам цитогенетического исследования. В отличие от этого для других генетических перестроек, таких как гипердиплоидия, перестройки <italic>KMT2A</italic> или t(12;21)(p13;q22)/ <italic>ETV6::RUNX1</italic>, данный разброс был выражен значительно слабее. Таким образом, при расхождениях между данными морфологического и цитогенетического исследований рекомендуется проводить анализ на морфологических мазках, где ранее был подтвержден бластоз с L3-морфологией.</p></trans-abstract><kwd-group xml:lang="en"><kwd>acute lymphoblastic leukemia</kwd><kwd>Burkitt lymphoma</kwd><kwd>MYC</kwd><kwd>cytogenetics</kwd><kwd>morphology</kwd></kwd-group><kwd-group xml:lang="ru"><kwd>острый лимфобластный лейкоз</kwd><kwd>лимфома Беркитта</kwd><kwd>MYC</kwd><kwd>цитогенетика</kwd><kwd>морфология</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Исследование проведено при поддержке фонда «Наука – детям»</funding-statement></funding-group></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><citation-alternatives><mixed-citation xml:lang="en">1.	Arber D.A., Orazi A., Hasserjian R., Thiele J., Borowitz M.J., Le Beau M.M., et al. 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