perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2023-68-5-65-69perinatology-1876Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESТранзиторный миелодиспластический синдром у новорожденного ребенкаTransient myelodysplastic syndrome in a newbornhttps://orcid.org/0000-0002-8375-0565ГабитоваН. Х.GabitovaN. Kh.

Габитова Наиля Хусаиновна — к.м.н., доц. кафедры госпитальной педиатрии 

420012 Казань, ул. Бутлерова, д. 49

Kazan

Borismk1@rambler.ruhttps://orcid.org/0000-0001-8961-0996ЧерезоваИ. Н.CherezovaI. N.

Черезова Ирина Николаевна — к.м.н., доц. кафедры госпитальной педиатрии 

420012 Казань, ул. Бутлерова, д. 49

Kazan

https://orcid.org/0000-0001-8808-5501КазаковаФ. М.KazakovaF. M.

Казакова Фатима Мусаевна — зав. отделением патологии новорожденных и недоношенных детей 

420138 Казань, Оренбургский тракт, д. 138

Kazan

https://orcid.org/0000-0001-9833-5156ОсиповаИ. В.OsipovaI. V.

Осипова Ильсия Вагизовна — зав. отделением онкогематологии 

420138 Казань, Оренбургский тракт, д. 138

Kazan

ФГБОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииРоссияKazan State Medical UniversityRussian FederationГАУЗ «Детская республиканская клиническая больница» Минздрава Республики ТатарстанРоссияChildren’s Republican Clinical HospitalRussian Federation2023151120236856569Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20232023Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1876

Представлен уникальный случай транзиторного миелодиспластического синдрома, характерного для детей с трисомией 21. Это состояние имеет неспецифические клинические проявления и специфическую гематологическую картину, аналогичную проявлениям острого лейкоза. Уникальность транзиторного миелодиспластического синдрома состоит в самопроизвольном разрешении в течение нескольких недель или месяцев после рождения и/или развитии острого миелобластного лейкоза после спонтанной регрессии в первые 4–5 лет жизни. Обязательным условием в развитии миелодиспластического синдрома служит наличие в клетках бластного клона трисомии 21-й хромосомы и мутации в гене GATA1.

The article presents a unique case of a transient myelodysplastic syndrome characteristic of children with trisomy 21. This condition has non-specific clinical manifestations and a specific hematological picture similar to those of acute leukemia. The uniqueness of transient myelodysplastic syndrome lies in the spontaneous resolution within a few weeks or months after birth and/or the development of acute myeloid leukemia after spontaneous regression in the first 4–5 years of life. A prerequisite for the development of myelodysplastic syndrome is the presence of a blast clone of trisomy of the 21st chromosome and a mutation in the GATA1 gene in the cells.

новорожденныйтранзиторный миелопролиферативный синдромсиндром ДаунаGATA1newborntransient myeloproliferative syndromeDown syndromeGATA1ReferencesGruber T.A., Downing J.R. The biology of pediatric acute megakaryoblastic leukemia. Blood 2015; 126(8): 943–949. DOI: 10.1182/blood-2015–05–567859Gruber T.A., Downing J.R. The biology of pediatric acute megakaryoblastic leukemia. Blood 2015; 126(8): 943–949. DOI: 10.1182/blood-2015–05–567859Gamis A.S., Smith F.O. Transient myeloproliferative disorder in children with Down syndrome: clarity to this enigmatic disorder. Br J Haematol 2012; 159(3): 277–287. DOI: 10.1111/bjh.12041Gamis A.S., Smith F.O. Transient myeloproliferative disorder in children with Down syndrome: clarity to this enigmatic disorder. Br J Haematol 2012; 159(3): 277–287. DOI: 10.1111/bjh.12041Watanabe K. Recent advances in the understanding of transient abnormal myelopoiesis in Down syndrome. Pediatr Int 2019; 61(3): 222–229. DOI: 10.1111/ped.13776Watanabe K. Recent advances in the understanding of transient abnormal myelopoiesis in Down syndrome. Pediatr Int 2019; 61(3): 222–229. DOI: 10.1111/ped.13776Yamato G., Park M.J., Sotomatsu M., Kaburagi T., Maruyama K., Kobayashi T. et al. Clinical features of 35 Down syndrome patients with transient abnormal myelopoiesis at a single institution. Int J Hematol 2021; 113(5): 662–667. DOI: 10.1007/s12185–020–03066–7Yamato G., Park M.J., Sotomatsu M., Kaburagi T., Maruyama K., Kobayashi T. et al. Clinical features of 35 Down syndrome patients with transient abnormal myelopoiesis at a single institution. Int J Hematol 2021; 113(5): 662–667. DOI: 10.1007/s12185–020–03066–7Camargo R., de Castro Moreira Dos Santos A. Jr., Cândido Guido B., Lemos Mendanha Cavalcante L., Silva Dias A.C., Mendonça de Pontes R. et al. A sensitive and inexpensive high-resolution melting-based testing algorithm for diagnosis of transient abnormal myelopoiesis and myeloid leukemia of Down syndrome. Pediatr Blood Cancer 2022; 69(11): e29866. DOI: 10.1002/pbc.29866Camargo R., de Castro Moreira Dos Santos A. Jr., Cândido Guido B., Lemos Mendanha Cavalcante L., Silva Dias A.C., Mendonça de Pontes R. et al. A sensitive and inexpensive high-resolution melting-based testing algorithm for diagnosis of transient abnormal myelopoiesis and myeloid leukemia of Down syndrome. Pediatr Blood Cancer 2022; 69(11): e29866. DOI: 10.1002/pbc.29866Roy A., Roberts I., Vyas P. Biology and management of transient abnormal myelopoiesis (TAM) in children with Down syndrome. Semin Fetal Neonatal Med 2012; 17(4): 196–201. DOI: 10.1016/j.siny.2012.02.010Roy A., Roberts I., Vyas P. Biology and management of transient abnormal myelopoiesis (TAM) in children with Down syndrome. Semin Fetal Neonatal Med 2012; 17(4): 196–201. DOI: 10.1016/j.siny.2012.02.010Arber D.A., Orazi A., Hasserjian R., Thiele J., Borowitz M.J., Le Beau M.M. et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016; 127(20): 2391–2405. DOI: 10.1182/blood-2016–03–643544Arber D.A., Orazi A., Hasserjian R., Thiele J., Borowitz M.J., Le Beau M.M. et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016; 127(20): 2391–2405. DOI: 10.1182/blood-2016–03–643544Roberts I. Leukemogenesis in infants and young children with trisomy 21. Hematol Am Soc Hematol Educ Program 2022; 2022(1):1–8. DOI: 10.1182/hematologyRoberts I. Leukemogenesis in infants and young children with trisomy 21. Hematol Am Soc Hematol Educ Program 2022; 2022(1):1–8. DOI: 10.1182/hematologyGarnett C., Cruz Hernandez D., Vyas P. GATA1 and cooperating mutations in myeloid leukaemia of Down syndrome. IUBMB Life 2020; 72: 119–130. DOI: 10.1002/iub.2197Garnett C., Cruz Hernandez D., Vyas P. GATA1 and cooperating mutations in myeloid leukaemia of Down syndrome. IUBMB Life 2020; 72: 119–130. DOI: 10.1002/iub.2197Reinhardt D., Reinhardt K., Neuhoff C., Sander A., Klusmann J.H., Pekrun A. et al. GATA1-Mutations-assoziierte Leukämien bei Kindern mit Trisomie 21-Mosaik [GATA1-mutation associated leukemia in children with trisomy 21 mosaic]. Klin Padiatr 2012; 224(3): 153–155. (In Deutsch). DOI: 10.1055/s-0032–1308988Reinhardt D., Reinhardt K., Neuhoff C., Sander A., Klusmann J.H., Pekrun A. et al. GATA1-Mutations-assoziierte Leukämien bei Kindern mit Trisomie 21-Mosaik [GATA1-mutation associated leukemia in children with trisomy 21 mosaic]. Klin Padiatr 2012; 224(3): 153–155. (In Deutsch). DOI: 10.1055/s-0032–1308988Bhatnagar N., Nizery L., Tunstall O., Vyas P., Roberts I. Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update. Curr Hematol Malig Rep 2016; 11(5): 333–341. DOI: 10.1007/s11899–016–0338-xBhatnagar N., Nizery L., Tunstall O., Vyas P., Roberts I. Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update. Curr Hematol Malig Rep 2016; 11(5): 333–341. DOI: 10.1007/s11899–016–0338-xWang L., Peters J.M., Fuda F., Li L., Karandikar N.J., Koduru P. et al. Acute megakaryoblastic leukemia associated with trisomy 21 demonstrates a distinct immunophenotype. Cytometry B Clin Cytom 2015; 88(4): 244–252. DOI: 10.1002/cyto.b.21198Wang L., Peters J.M., Fuda F., Li L., Karandikar N.J., Koduru P. et al. Acute megakaryoblastic leukemia associated with trisomy 21 demonstrates a distinct immunophenotype. Cytometry B Clin Cytom 2015; 88(4): 244–252. DOI: 10.1002/cyto.b.21198Brouwer N., Matarraz S., Nierkens S., Hofmans M., Nováková M., da Costa E.S. et al.; On Behalf Of The EuroFlow Consortium. Immunophenotypic Analysis of Acute Megakaryoblastic Leukemia: A EuroFlow Study. Cancers (Basel) 2022;14 (6): 1583. DOI: 10.3390/cancers14061583Brouwer N., Matarraz S., Nierkens S., Hofmans M., Nováková M., da Costa E.S. et al.; On Behalf Of The EuroFlow Consortium. Immunophenotypic Analysis of Acute Megakaryoblastic Leukemia: A EuroFlow Study. Cancers (Basel) 2022;14 (6): 1583. DOI: 10.3390/cancers14061583

The authors declare that there are no conflicts of interest present.