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Case Report
A Case of Transient Myeloproliferative Disorder Associated with Clonal Trisomy 21 in a Chromosomally Normal Newborn
Clin Pediatr Hematol Oncol 2018;25:191-6.
Published online October 31, 2018
© 2018 Korean Society of Pediatric Hematology-Oncology and Korean Society for Pediatric Neuro-Oncology

Jihyun Park, M.D., Yoo Rha Hong, M.D. and Seom Gim Kong, M.D.

Department of Pediatrics, Kosin University College of Medicine, Busan, Korea
Correspondence to: Seom Gim Kong
Department of Pediatrics, Kosin University College of Medicine, 262 Gamcheon-ro, Seo-gu, Busan 49267, Korea
Tel: +82-51-990-6278
Fax: +82-51-990-3065
Received August 10, 2018; Revised August 22, 2018; Accepted September 19, 2018.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Transient myeloproliferative disorder (TMD) is similar to congenital leukemia, with leukocytosis, increased peripheral blast cells, and hepatomegaly in the neonatal period. Although TMD occurs only in patients with Down syndrome and trisomy 21 mosaicism, there have been reports of congenital leukemia with trisomy 21 limited to hematopoietic cells showing spontaneous resolution. We identified trisomy 21 in the leukemic cells in a patient with congenital leukemia. As there was no other gene abnormality, we stopped chemotherapy, and the disease resolved spontaneously. We reviewed the cases of clonal trisomy 21 TMD and found that their clinical features were similar to those of TDM associated with Down syndrome. In conclusion, in a phenotypically normal patient with suspected congenital leukemia, it is necessary to confirm the presence of 21 trisomy. If the neonate has only trisomy 21 without other gene abnormalities, intensive chemotherapy may not be required.
Keywords: Myeloproliferative disorder, Infant, Newborn, Chromosome 21, GATA1 transcription factor

October 2018, 25 (2)
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  • Seom Gim Kong