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Transient abnormal myelopoiesis in a phenotypically normal newborn with polyclonal trisomy 21

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Abstract

We report a rare case of transient abnormal myelopoiesis (TAM) in a phenotypically normal neonate. The presence of a palpable hepatomegaly prompted in-depth laboratory tests, which revealed the presence of severe hyperleukocytosis, with blast cells present in a peripheral blood smear. Although no signs of Down syndrome were present, we suspected TAM. Further analysis identified a mutation in GATA1 along with the unique finding of two different trisomic cell lines, detected upon karyotyping; one with trisomy 21 only, and one with trisomies 21 and 22, which was present in a subpopulation of peripheral blood cells. These genetic abnormalities disappeared by the age of 6 months. The presence of two different trisomic clones may be an evidence of the polyclonal nature of TAM in this patient.

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Acknowledgments

The authors would like to acknowledge Dr. M. C. Pittalis (Laboratory of Cytogenetics, Department of Medicine and Surgery, Obstetrics, and Gynecology, University of Bologna) for cytogenetic analysis (G-banding and FISH) of fibroblast cultures.

Conflict of interest

The authors declare that they have no conflicts of interest.

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Authors and Affiliations

  1. Department of Pediatric Hematology and Oncology, S. Orsola-Malpighi Hospital, University of Bologna, Via Massarenti 11, Building 13, 40138, Bologna, Italy

    Francesco Corazza, Virginia Libri, Monica Franzoni, Salvatore Serravalle, Fraia Melchionda & Andrea Pession

  2. “G. Prodi” Cancer Research Center, University of Bologna, Bologna, Italy

    Annalisa Astolfi

  3. Department of Neonatology, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy

    Rosina Alessandroni

Authors
  1. Francesco Corazza
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  2. Annalisa Astolfi
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  3. Virginia Libri
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  4. Monica Franzoni
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  5. Salvatore Serravalle
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  6. Rosina Alessandroni
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  7. Fraia Melchionda
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  8. Andrea Pession
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Corresponding author

Correspondence to Fraia Melchionda.

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Corazza, F., Astolfi, A., Libri, V. et al. Transient abnormal myelopoiesis in a phenotypically normal newborn with polyclonal trisomy 21. Int J Hematol 99, 794–797 (2014). https://doi.org/10.1007/s12185-014-1584-0

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  • DOI: https://doi.org/10.1007/s12185-014-1584-0

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