Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children99910.24287/j.999TLSHTBLITERATURE REVIEWОБЗОР ЛИТЕРАТУРЫReview ArticleRare inherited bone marrow failure syndromes with a predisposition to malignant neoplasmsРедкие синдромы врожденной костномозговой недостаточности с предрасположенностьюhttps://orcid.org/0000-0002-9335-5286VasilevaMaria S.ВасильеваМария Сергеевна
Russian Federation

a hematologist at the Hematology/Oncology Isolation Unit

врач-гематолог боксированного отделения гематологии/онкологии

mariya.vasileva@dgoi.ruhttps://orcid.org/0000-0002-0016-6698MaschanA. A.МасчанА. А.
Russian Federation
mariya.vasileva@dgoi.ruhttps://orcid.org/0000-0002-2322-5734NovichkovaG. A.НовичковаГ. А.
Russian Federation
mariya.vasileva@dgoi.ruThe 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 России22102025131220252431461551608202505092025Copyright ©; 2025, «D. Rogachev NMRCPHOI»Copyright ©; 2025, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2025«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/999

Rare inherited bone marrow failure syndromes associated with a predisposition to malignant neoplasms are a heterogeneous group of diseases characterized by impaired hematopoiesis and accompanied by non-hematological manifestations and a high risk of developing malignant neoplasms. This review presents an analysis of the molecular genetic and clinical features of syndromes associated with mutations in the GATA1, GATA2, TP53, DDX41, SRP72, MYSM1, SH2B3, CBLB, and ERCC6L2 genes. Here, we discuss the molecular mechanisms of these diseases, their clinical and hematological manifestations as well as modern diagnostic and therapeutic approaches.

Редкие синдромы врожденной костномозговой недостаточности с предрасположенностью к злокачественным новообразованиям представляют собой гетерогенную группу заболеваний, характеризующихся нарушениями гемопоэза, а также сопровождающихся негематологическими проявлениями и высоким риском развития злокачественных новообразований. Настоящий обзор посвящен анализу молекулярно-генетических и клинических особенностей синдромов, ассоциированных с мутациями генов GATA1, GATA2, TP53, DDX41, SRP72, MYSM1, SH2B3, CBLB и ERCC6L2. В статье рассмотрены молекулярные механизмы, клинико-гематологические проявления и современные подходы к диагностике и лечению данных нозологий.

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