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. © The Japanese Society of Hematology 2014.

Corazza, F., Astolfi, A., Libri, V., Franzoni, M., Serravalle, S., Alessandroni, R., et al. (2014). Transient abnormal myelopoiesis in a phenotypically normal newborn with polyclonal trisomy 21. INTERNATIONAL JOURNAL OF HEMATOLOGY, 99(6), 794-797 [10.1007/s12185-014-1584-0].

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

CORAZZA, FRANCESCO;Astolfi, Annalisa;Franzoni, Monica;Alessandroni, Rosina;Melchionda, Fraia
;
Pession, Andrea
2014

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. © The Japanese Society of Hematology 2014.
2014
Corazza, F., Astolfi, A., Libri, V., Franzoni, M., Serravalle, S., Alessandroni, R., et al. (2014). Transient abnormal myelopoiesis in a phenotypically normal newborn with polyclonal trisomy 21. INTERNATIONAL JOURNAL OF HEMATOLOGY, 99(6), 794-797 [10.1007/s12185-014-1584-0].
Corazza, Francesco; Astolfi, Annalisa; Libri, Virginia; Franzoni, Monica; Serravalle, Salvatore; Alessandroni, Rosina; Melchionda, Fraia; Pession, And...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/611650
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