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International Journal of Hematology

, Volume 92, Issue 3, pp 527–530 | Cite as

Transient abnormal myelopoiesis in a cytogenetically normal neonate

  • Kentaro Yanase
  • Keisuke KatoEmail author
  • Nobuko Katayama
  • Yoko Mouri
  • Chie Kobayashi
  • Junko Shiono
  • Masakazu Abe
  • Ai Yoshimi
  • Kazutoshi Koike
  • Jun-ichi Arai
  • Masahiro Tsuchida
Case Report

Abstract

We present a cytogenetically normal neonate who developed transient abnormal myelopoiesis. The blasts showed trisomy 21. In contrast, fibroblasts, and PHA-stimulated peripheral blood demonstrated normal diploid line on extensive karyotyping. Direct sequencing of the DNA derived from the peripheral blood at overt disease revealed splice site mutation in the boundary of GATA1 exon 2. The patient received three courses of chemotherapy leading to complete remission. During the complete remission, there was neither mutation of GATA1 exon 2 nor trisomy 21, confirming somatic nature of both abnormalities. The patient is now free from the disease 12 months after remission. This case emphasizes the significance of trisomy 21 as the cause of transient abnormal myelopoiesis in Down syndrome.

Keywords

Transient abnormal myelopoiesis GATA1 Trisomy 21 

Notes

Acknowledgments

We thank Dr. Alan H. Turner, School of Medical Sciences, RMIT University, Melbourne, Australia and Ms. Yuko Kasai for reviewing the manuscript. This work was supported by Ibaraki Cancer Investigation Fund.

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Copyright information

© The Japanese Society of Hematology 2010

Authors and Affiliations

  • Kentaro Yanase
    • 1
    • 2
  • Keisuke Kato
    • 1
    Email author
  • Nobuko Katayama
    • 2
  • Yoko Mouri
    • 2
  • Chie Kobayashi
    • 1
  • Junko Shiono
    • 3
  • Masakazu Abe
    • 4
  • Ai Yoshimi
    • 1
  • Kazutoshi Koike
    • 1
  • Jun-ichi Arai
    • 2
  • Masahiro Tsuchida
    • 1
  1. 1.Division of Pediatric Hematology and OncologyIbaraki Children’s HospitalMitoJapan
  2. 2.Division of NeonatologyIbaraki Children’s HospitalIbarakiJapan
  3. 3.Division of Pediatric CardiologyIbaraki Children’s HospitalIbarakiJapan
  4. 4.Division of Cardiovascular SurgeryIbaraki Children’s HospitalIbarakiJapan

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