Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children109210.24287/j.1092LITERATURE REVIEWОБЗОР ЛИТЕРАТУРЫReview ArticleWhole-genome sequencing as a method for detecting chromosomal rearrangements in children with acute myeloid leukemiaПолногеномное секвенирование как метод выявления хромосомных перестроек у детей с острым миелоидным лейкозомhttps://orcid.org/0009-0003-3441-6397IlyasovaK. R.ИльясоваК. Р.
Russian Federation

MD in Clinical Laboratory Medicine at the Laboratory of Cytogenetics and Molecular Genetics

врач клинической лабораторной диагностики лаборатории цитогенетики и молекулярной генетики

carinaisvv0206@icloud.comhttps://orcid.org/0000-0001-9179-8430AbasovR. K.АбасовР. Х.
Russian Federation
carinaisvv0206@icloud.comhttps://orcid.org/0000-0003-1735-0093MaschanM. A.МасчанМ. А.
Russian Federation
carinaisvv0206@icloud.comhttps://orcid.org/0000-0001-9634-5828ZerkalenkovaE. A.ЗеркаленковаЕ. А.
Russian Federation
carinaisvv0206@icloud.comThe Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России140420262511851961202202606032026Copyright ©; 2026, «D. Rogachev NMRCPHOI»Copyright ©; 2026, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2026«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/1092

Modern hematology/oncology is undergoing a transformation driven by the implementation of whole-genome sequencing (WGS) technologies. In adults, large-scale initiatives such as the Cancer Genome Atlas have provided the basis for acute myeloid leukemia (AML) molecular classification as well as for the development of targeted therapy for this disease. In pediatric hematology/oncology, the search for optimal diagnostic strategies continues: in 20–25% of children with AML, standard diagnostic tests reveal an apparently normal karyotype that may, however, often harbor unknown or cryptic driver events. These events define the unique molecular landscape of the disease dominated by structural rearrangements. Today, the use of WGS enables the identification of novel age-related molecular subtypes of the disease as well as driver aberrations, with many of them associated with unfavorable prognosis and resistance to standard treatment. This review systematically presents information on how WGS fundamentally changed our understanding of the molecular architecture of pediatric AML: from the identification of novel markers (e.g., UBTF-TD) and rearrangements leading to enhancer hijacking (BCL11B, HOX) to the revision of approaches to molecular classification and risk stratification. Here, we summarized the existing data on the diagnostic and prognostic significance of WGS in pediatric AML and discussed limitations of the clinical interpretation of findings as well as prospects for WGS integration into routine diagnostic practice.

Современная онкогематология переживает трансформацию, обусловленную внедрением технологий полногеномного секвенирования (ПГС). Острый миелоидный лейкоз (ОМЛ) у взрослых благодаря масштабным инициативам, таким как The Cancer Genome Atlas, получил основу для молекулярной классификации и развития таргетной терапии. В детской онкогематологии поиск оптимальных диагностических стратегий продолжается: у 20–25% детей с ОМЛ стандартная диагностика выявляет нормальный кариотип, за которым нередко скрываются криптические или неизвестные драйверные события, определяющие уникальный молекулярный ландшафт заболевания с преобладанием структурных перестроек. В настоящее время применение ПГС позволяет выявлять новые возраст-ассоциированные молекулярные подтипы заболевания и драйверные нарушения, многие из которых ассоциированы с неблагоприятным прогнозом и резистентностью к стандартной терапии. В настоящем обзоре систематизированы данные о том, как ПГС принципиально изменило представления о молекулярной архитектуре детского ОМЛ – от идентификации новых маркеров (например, UBTF-TD) и перестроек, реализующих механизм захвата энхансеров (BCL11B, HOX), до пересмотра подходов к молекулярной классификации и стратификации риска. Обобщены современные данные о диагностической и прогностической значимости ПГС при детском ОМЛ, а также обсуждаются ограничения клинической интерпретации получаемых данных и перспективы интеграции ПГС в рутинную диагностическую практику.

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