Abstract
Transient abnormal myelopoiesis (TAM) is a unique clonal myeloproliferation characterized by immature megakaryoblasts that occurs in 5–10% of neonates with Down syndrome (DS). Although TAM regresses spontaneously in most patients, approximately 20% of TAM cases result in early death, and approximately 20% of survivors develop acute megakaryoblastic leukemia (AMKL). We retrospectively reviewed records of 35 DS patients with TAM to determine the correlation between clinical characteristics and blast percentage. Thirteen of the 35 patients were classified as low blast percentage TAM (LBP-TAM), defined as TAM with a peak peripheral blast percentage ≤ 10%. Although no patient with LBP-TAM experienced systemic edema, disseminated intravascular coagulation, or early death, eight patients had elevated direct bilirubin levels (> 2 mg/dl) and one developed AMKL. All patients with LBP-TAM had serum markers of liver fibrosis that exceeded the normal limits, and two patients underwent liver biopsy to clarify the etiology of pathological jaundice. Taken together, our results suggest that patients with LBP-TAM may be at risk of liver fibrosis and liver failure, similarly to patients with classical TAM. Although these patients generally have a good prognosis, they should be carefully monitored for potential development of liver disease and leukemia.
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Acknowledgements
The authors thank Etsuro Ito for their valuable assistance in performing the analysis of GATA1 mutation in some TAM patients. The authors would also like to thank Enago (http://www.enago.jp) for the English review. This work was supported by Health and Labor Sciences Research Grants (201128038B and 201324122A), a grant for Cancer Research, and a grant for Research on Children and Families from the Ministry of Health, Labor, and Welfare of Japan, and a Grant-in-Aid for Scientific Research (B) and (C) and Exploratory Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan, and a Research grant for Bureau of Gunma Prefectural Hospitals, and the Japan Agency for Medical Research and Development (AMED) (Innovative Cancer Medical Practice Research Project (16ek0109055h0003 and 18ck0106435h0001).
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GY, MP, and YH wrote, analyzed, and designed the study. All authors critically reviewed and revised the manuscript.
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Yamato, G., Park, Mj., Sotomatsu, M. et al. Clinical features of 35 Down syndrome patients with transient abnormal myelopoiesis at a single institution. Int J Hematol 113, 662–667 (2021). https://doi.org/10.1007/s12185-020-03066-7
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DOI: https://doi.org/10.1007/s12185-020-03066-7