OncohematologyOncohematologyОнкогематология1818-83462413-4023Publishing House ABV Press91810.17650/1818-8346-2024-19-2-88-100BASIC RESEARCHФУНДАМЕНТАЛЬНЫЕ ИССЛЕДОВАНИЯ В ПРАКТИЧЕСКОЙ МЕДИЦИНЕ НА СОВРЕМЕННОМ ЭТАПЕHereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of developmentСиндромы наследственной предрасположенности к развитию миелоидных новообразований: заболевания, гены и механизмы развитияhttps://orcid.org/0000-0003-1581-9118MakarovaM. V.МакароваМ. В.
Russian Federation

Maria V. Makarova.

Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191; 86 Profsoyuznaya St., 117997 Moscow

Макарова Мария Владимировна.

115191 Москва, 4-й Рощинский пр-д, 20, стр. 1; 117997 Москва, ул. Профсоюзная, 86

makarova@evogenlab.ruhttps://orcid.org/0000-0002-2835-5992NemtsovaM. V.НемцоваМ. В.
Russian Federation

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https://orcid.org/0000-0001-8581-1328ChekiniD. A.ЧекиниД. А.
Russian Federation

111 1st Uspenskoe Shosse, Lapino, Moscow region 143081

143081 Московская обл., д. Лапино, 1-е Успенское шоссе, 111

https://orcid.org/0000-0002-9734-017XChernevskiyD. K.ЧерневскийД. К.
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https://orcid.org/0000-0002-2534-8463SagaydakO. V.СагайдакО. В.
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https://orcid.org/0000-0003-4732-6748KosovaE. V.КосоваЕ. В.
Russian Federation

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https://orcid.org/0000-0002-0653-3655KrinitsynaA. A.КриницынаА. А.
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https://orcid.org/0000-0002-6556-163XBelenikinM. S.БеленикинМ. С.
Russian Federation

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https://orcid.org/0000-0003-1564-424XZeynalovaP. A.ЗейналоваП. А.
Russian Federation

111 1st Uspenskoe Shosse, Lapino, Moscow region 143081

143081 Московская обл., д. Лапино, 1-е Успенское шоссе, 111

EVOGENООО «Эвоген»Russian Scientific Center of Roentgenoradiology, Ministry of Health of RussiaФГБУ «Российский научный центр рентгенорадиологии» Минздрава РоссииResearch Centre for Medical GeneticsФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)ФГАОУ ВО Первый Московский государственный медицинский университет им. И.М. Сеченова Минздрава России (Сеченовский Университет)Clinical Hospital “Lapino” of the “Mother and Child” Group of companiesКлинический госпиталь «Лапино» группы компаний «Мать и дитя»Privolzhsky Research Medical University, Ministry of Health of RussiaФГБОУ ВО «Приволжский исследовательский медицинский университет» Минздрава РоссииNational Medical Research Centre of Cardiology named after Academician E.I. Chazov, Ministry of Health of RussiaФГБУ «Национальный медицинский исследовательский центр кардиологии им. акад. Е.И. Чазова» Минздрава России03042024192881001701202402042024https://oncohematology.abvpress.ru/ongm/article/view/918

With the development of modern next generation sequencing based DNA diagnostic methods, it has become possible to study hereditary predisposition to oncohematological diseases. Germline variants (mutations) of RUNX1, CEBPA, GATA2, ANKRD26, DDX41, FANC- (Fanconi anemia), etc. genes, associated with the development of hereditary hematological malignancies, have been identified. Timely diagnosis of such diseases will allow for medical genetic counseling and testing of the patient’s relatives to identify or exclude the risk of developing the disease, select a donor for the patient (it is undesirable to use a mutation carrier relative as a donor), and personalize the choice of chemotherapy regimens (for example, patients with Fanconi anemia may experience increased sensitivity to chemotherapy). The aim of this review is to present a modern view of the genetic predisposition to the development of hematological malignancies.

С появлением современных высокопроизводительных методов ДНК-диагностики появилась возможность изучения наследственной предрасположенности к онкогематологическим заболеваниям. Идентифицированы герминальные варианты (мутации) генов RUNX1, CEBPA, GATA2, ANKRD26, DDX41, FANC- (анемия Фанкони) и др., ассоциированные с развитием наследственных гемобластозов. Своевременная диагностика таких заболеваний позволит провести медико-генетическое консультирование и тестирование родственников пациента I–II степеней родства для выявления или исключения риска развития заболевания, подобрать донора пациенту (использовать в качестве донора родственника-носителя мутации нежелательно), персонализированно выбрать схемы химиотерапии (например, у пациентов с анемией Фанкони может наблюдаться повышенная чувствительность к химиотерапии). Цель данного обзора – представить современный взгляд на генетическую предрасположенность к развитию гемобластозов.

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