Case Report: Transient myeloproliferative disorder with trisomy 21 in blast cells
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.
Authors
- Beata Borek-Dzięcioł (ORCID: https://orcid.org/0000-0003-1805-3437)
- Bożena Kociszewska‐Najman (ORCID: https://orcid.org/0000-0002-9498-9918)
- Maria Marta Orzeł (ORCID: https://orcid.org/0009-0007-2007-7469)
- Aleksandra Zacny
- Barbara Saniewska (ORCID: https://orcid.org/0009-0007-8392-1225)
Institutions
- Medical University of Warsaw (PL)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-05-30
- DOI
- https://doi.org/10.3389/fped.2025.1604803
- Primary Topic
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00