Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children91310.24287/1726-1708-2024-23-4-23-33ORIGINAL ARTICLESОРИГИНАЛЬНЫЕ СТАТЬИTransient abnormal myelopoiesis, myelodysplastic syndrome and acute myeloid leukemia in children with Down syndromeТранзиторный аномальный миелопоэз, миелодиспластический синдром и острый миелоидный лейкоз у детей с синдромом Даунаhttps://orcid.org/0000-0002-6314-2132AbashidzeZ. A.АбашидзеЗ. А.
Russian Federation

Zalina A. Abashidze, a hematologist of Hematology/Oncology Isolation Unit at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation Address:

1 Samory Mashela St., Moscow 117997

Абашидзе Залина Ахмедовна, врач-гематолог боксированного отделения гематологии/онкологии

117997, Москва, ул. Саморы Машела, 1

zalina.abashidze@dgoi.ruhttps://orcid.org/0000-0002-0813-5626KalininaI. I.КалининаИ. И.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-7265-0414KhachatryanL. A.ХачатрянЛ. А.
Russian Federation

Moscow

Москва

VasilievaM. S.ВасильеваМ. С.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-3277-9018GaskovaM. V.ГаськоваМ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-9634-5828ZerkalenkovaE. A.ЗеркаленковаЕ. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-1085-4646KazakovaA. N.КазаковаА. Н.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-2352-7716OlshanskayaYu. V.ОльшанскаяЮ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-3450-0498MikhailovaE. V.МихайловаЕ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-0889-6986PopovA. M.ПоповА. М.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-7578-9657VoroninK. A.ВоронинК. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-0016-6698MaschanA. A.МасчанА. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-2322-5734NovichkovaG. A.НовичковаГ. А.

Moscow

Москва

The 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 России1312202423423331211202413122024Copyright ©; 2024, «D. Rogachev NMRCPHOI»Copyright ©; 2024, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2024«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/913

Myeloid neoplasms associated with Down syndrome (DS) are represented by transient abnormal myelopoiesis, acute myeloid leukemia (AML) and myelodysplastic syndrome. Transient abnormal myelopoiesis is a clonal myeloproliferative syndrome characterized by an increased number of blast cells in the peripheral blood, morphologically and immunophenotypically most commonly related to megakaryoblasts, and the presence of an acquired mutation in the GATA1 gene. This syndrome occurs in infants up to 6 months of age. Children with DS have an abnormally high risk of developing hematological malignancies. The incidence of AML in these patients is 150–400 times higher than in children without DS. Survival rates and prognosis in children with AML and DS (AML-DS) treated with reduced-intensity chemotherapy are significantly higher than in children without DS: the overall survival ranges from 84% to 90% and the event-free survival is up to 89%. At the same time, standard intensive chemotherapy (with high-dose anthracyclines and intensive timing of induction) is associated in these patients with high toxicity and significant mortality due to infectious complications. Treatment outcomes in patients with AML-DS in Russia do not exceed 66%, which is significantly lower than those achieved by international cancer research groups. There is a need for standardization of therapy for AML-DS in Russia and introduction of a uniform treatment protocol with reduced chemotherapy doses and common standards of supportive care as well as prophylaxis and treatment of infectious complications. 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 Russia.

Транзиторный аномальный миелопоэз – это транзиторный клональный миелопролиферативный синдром, характеризующийся повышенным количеством бластных клеток в периферической крови, наиболее часто морфологически и иммунофенотипически относящихся к мегакариобластам, а также выявлением приобретенной мутации в гене GATA1. Данный синдром встречается в периоде новорожденности и до 6 месяцев. Дети с СД имеют аномально высокий риск развития гемобластозов. Частота встречаемости ОМЛ у них в 150–400 раз выше, чем у детей без СД. При проведении химиотерапии сниженной интенсивности показатели выживаемости и прогноз у детей с ОМЛ и СД (ОМЛ-СД) значительно выше, чем у детей с ОМЛ без СД и составляют: общая выживаемость от 84 до 90%, бессобытийная выживаемость до 89%. В то же время стандартная интенсивная химиотерапия (с высокими дозами антрациклинов и интенсивным таймингом индукции) ассоциирована у этих пациентов с высокой токсичностью и значительной смертностью в результате инфекционных осложнений. Результаты лечения пациентов с ОМЛ-СД в России не превышают 66%, что значительно ниже данных международных исследовательских групп. Необходимы стандартизация терапии ОМЛ-СД в России, внедрение единого протокола лечения с редукцией доз химиотерапевтических агентов и единых стандартов сопроводительной терапии, профилактики и лечения инфекционных осложнений. Данное исследование одобрено независимым этическим комитетом и утверждено решением ученого совета ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России.

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