Transient abnormal myelopoiesis without constitutional Down syndrome
Vol. 9 No. 1 (2020), Articles
Vol. 9 No. 1 (2020)

Transient abnormal myelopoiesis without constitutional Down syndrome

Articles
https://doi.org/10.7363/090104
Published 2019-12-23
Igne Kairiene
Center for Pediatric Oncology and Hematology, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania
Vaidas Dirse
Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania; Clinic of Internal Medicine, Family Practice and Oncology, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
Ugnius Mickys
National Center of Pathology, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania
Audrone Muleviciene
Center for Pediatric Oncology and Hematology, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania
Paresh Vyas
MRC Molecular Haematology Unit, BRC Haematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK; Department of Haematology, Oxford University Hospitals NHS Trust, Oxford, UK
Jelena Rascon
Center for Pediatric Oncology and Hematology, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania; Faculty of Medicine, Vilnius University, Vilnius, Lithuania
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Keywords

transient abnormal myelopoiesis
congenital leukemia
Down syndrome
myelodysplastic syndrome

How to Cite

Kairiene, I., Dirse, V., Mickys, U., Muleviciene, A., Vyas, P., & Rascon, J. (2019). Transient abnormal myelopoiesis without constitutional Down syndrome. Journal of Pediatric and Neonatal Individualized Medicine (JPNIM), 9(1), e090104. https://doi.org/10.7363/090104
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Abstract

Transient abnormal myelopoiesis (TAM) is a unique entity that usually occurs in children with Down syndrome (DS) or with trisomy 21 mosaicism. The somatic GATA1 mutation is a distinct feature of TAM. At presentation, TAM can resemble congenital leukemia (CL), which unlike TAM has an extremely poor prognosis and requires prompt therapeutic interventions. Therefore, correct and timely distinction between the two entities is crucial. We report a case of a phenotypically normal infant diagnosed with CL during the first weeks of life that retrospectively was reassessed as TAM. No acute myeloid leukemia (AML) specific mutations were found except for trisomy 21 confined exclusively to leukemic blasts. Retrospectively GATA1 mutation was also detected in malignant cells, but somatic genome appeared to be intact.
https://doi.org/10.7363/090104
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