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01.10.2010 | Case Report

Transient abnormal myelopoiesis in a cytogenetically normal neonate

verfasst von: Kentaro Yanase, Keisuke Kato, Nobuko Katayama, Yoko Mouri, Chie Kobayashi, Junko Shiono, Masakazu Abe, Ai Yoshimi, Kazutoshi Koike, Jun-ichi Arai, Masahiro Tsuchida

Erschienen in: International Journal of Hematology | Ausgabe 3/2010

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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.

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Titel: Transient abnormal myelopoiesis in a cytogenetically normal neonate
verfasst von: Kentaro Yanase
Keisuke Kato
Nobuko Katayama
Yoko Mouri
Chie Kobayashi
Junko Shiono
Masakazu Abe
Ai Yoshimi
Kazutoshi Koike
Jun-ichi Arai
Masahiro Tsuchida
Publikationsdatum: 01.10.2010
Verlag: Springer Japan
Erschienen in: International Journal of Hematology / Ausgabe 3/2010
Print ISSN: 0925-5710
Elektronische ISSN: 1865-3774
DOI: https://doi.org/10.1007/s12185-010-0646-1

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