Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children65210.24287/1726-1708-2022-21-3-65-76CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯMECOM-associated syndrome: a literature review and case reportsMECOM-ассоциированный синдром: обзор литературы и собственные клинические наблюденияhttps://orcid.org/0000-0002-0411-9485GurzhikhanovaM. Kh.ГуржихановаМ. Х.
Russian Federation

Medina Kh. Gurzhikhanova, a resident

1 Samory Mashela St., Moscow 117997, Russia

Гуржиханова Медина Хароновна, ординатор

117997, Москва, ул. Саморы Машела, 1

medina.gurzhihanova@fccho-moscow.ruhttps://orcid.org/0000-0002-2410-2867ShestopalovG. I.ШестопаловГ. И.
Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

Москва

https://orcid.org/0000-0002-9335-5286VasilyevaM. S.ВасильеваМ. С.
Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

Москва

https://orcid.org/0000-0002-1258-8281PetrovaU. N.ПетроваУ. Н.
Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

Москва

https://orcid.org/0000-0001-6603-5749AntonovaK. S.АнтоноваК. С.
Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

Москва

https://orcid.org/0000-0003-4567-1871FedorovaD. V.ФедороваД. В.
Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

Москва

https://orcid.org/0000-0003-2787-6005KotskayaN. N.КоцкаяН. Н.
Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

Москва

https://orcid.org/0000-0002-7696-1153RadyginaS. A.РадыгинаС. А.
Russian Federation

1 Samory Mashela St., Moscow 117997, Russia

Москва

LubsanovaL. B.ЛубсановаЛ. Б.
Russian Federation

Ulan-Ude

Улан-Удэ

https://orcid.org/0000-0002-4252-8829DonyushE. K.ДонюшЕ. К.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-1336-9379FinkO. S.ФинкО. С.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-4569-657XPristanskovaE. A.ПристансковаЕ. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-4431-1444SkorobogatovaE. V.СкоробогатоваЕ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-3974-5662PavlovaA. V.ПавловаА. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-0900-6874KurnikovaM. A.КурниковаМ. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-8404-1800SuntsovaE. V.СунцоваЕ. В.
Russian Federation

Moscow

Москва

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 РоссииChildren’s Republican Clinical Hospital of Ministry of Healthcare of the Republic of BuryatiaГАУЗ «Детская республиканская клиническая больница» Министерства здравоохранения Республики БурятияRussian Children’s Clinical Hospital of the N.I. Pirogov Russian National Research Medical University of Ministry of Healthcare of the Russian FederationОбособленное структурное подразделение Российская детская клиническая больница ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России1510202221365761510202215102022Copyright ©; 2022, «D. Rogachev NMRCPHOI»Copyright ©; 2022, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2022«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/652

Mutations in the MECOM gene (MDS1 and EVI1 complex locus) may be one of the causes of a rare combination of congenital radioulnar synostosis resulting in extremely limited forearm pronation and supination, and amegakaryocytic thrombocytopenia. The clinical spectrum of the disease can range from isolated radioulnar synostosis with or without hematologic manifestations to severe bone marrow failure without skeletal abnormalities. Other phenotypic manifestations include clinodactyly, brachydactyly, cardiac and renal malformations, presenile hearing loss, and B-cell deficiency. In view of the heterogeneity of phenotypic manifestations of the disease, the term “MECOM-associated syndrome” was proposed for all patients with mutations in the MECOM gene. Here we report 3 pediatric cases of MECOM-associated syndrome with different clinical manifestations, diagnostic approaches, therapeutic options, and outcomes. The patient’s parents agreed to use the information, including the child’s photo, in scientific research and publications.

Мутации в гене MECOM (локус комплекса MDS1 и EVI1) являются одной из причин развития редкой комбинации врожденного радиоульнарного синостоза, приводящего к крайне ограниченной пронации и супинации предплечий, и амегакариоцитарной тромбоцитопении. Клинический спектр заболевания может варьировать от изолированного радиоульнарного синостоза без гематологических проявлений до тяжелой костномозговой недостаточности без скелетных аномалий. Также могут отмечаться другие фенотипические проявления: клинодактилия, брахидактилия, пороки развития сердца и почек, пресенильная тугоухость и В-клеточный дефицит. Принимая во внимание разнообразие фенотипических проявлений данного заболевания, предложено использование термина «MECOM-ассоциированный синдром» для всех пациентов с мутациями в гене MECOM. В статье представлено 3 случая пациентов детского возраста с MECOM-ассоциированным синдромом, имеющих различные клинические проявления, описаны процесс постановки диагноза, варианты терапии и исходы. Родители пациентов дали согласие на использование информации, в том числе фотографий детей, в научных исследованиях и публикациях.

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