CASE REPORT article
Front. Pediatr.
Sec. Neonatology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1604803
Case report: Transient myeloproliferative disorder with trisomy 21 in blast cells
Provisionally accepted
- Department of Neonatology and Rare Diseases, Medical University of Warsaw, Warsaw, Poland
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Transient myeloproliferative disorder is a clonal myeloproliferative syndrome that occurs in the presence of mutations in the GATA1 gene and chromosome 21 trisomy. It affects almost exclusively newborns with Down syndrome and usually resolves spontaneously. Neonatal leukemia is a rare childhood disease. Its prognosis is worse. We report a novel case of transient myeloproliferative disorder in a neonate without phenotypic features of Down syndrome, emphasizing the importance of comprehensive genetic diagnostics in atypical presentations.We present a case of a 4-day-old female neonate without phenotypic features of Down syndrome with suspected proliferative hematopoietic disease. A blood smear at birth showed severe anemia, leukocytosis and the presence of blasts. Abdominal ultrasound showed hepatosplenomegaly. In the bone marrow, 70.2% blast cell infiltration was described. An abnormal karyotype of 47XX+21 and GATA1 mutation were detected only in the blood cells. Transient myeloproliferative syndrome with t21 mosaicism was diagnosed. The patient received cytoreductive treatment according to the AML BFM protocol.This case highlights the importance of genetic testing in neonates with congenital anemia and hyperleukocytosis, particularly when Down syndrome is not phenotypically apparent. Detecting trisomy 21 mosaicism and the GATA1 mutation is critical for diagnosing transient myeloproliferative disorder, planning the best treatment and determining prognosis.
Keywords: Newborn, Transient myeloproliferative syndrome, Blast cells, Leukemia, Down Syndrome, trisomy 21, case report
Received: 02 Apr 2025; Accepted: 14 May 2025.
Copyright: © 2025 Zacny, Saniewska, Orzeł and Borek-Dzięcioł. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Aleksandra Zacny, Department of Neonatology and Rare Diseases, Medical University of Warsaw, Warsaw, Poland
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