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International Journal of Hematology
Published in: International Journal of Hematology 3/2010

01-10-2010 | Case Report

Transient abnormal myelopoiesis in a cytogenetically normal neonate

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

Published in: International Journal of Hematology | Issue 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.
Literature
1.
Homans AC, Verissimo AM, Vlacha V. Transient abnormal myelopoiesis of infancy associated with trisomy 21. Am J Pediatr Hematol Oncol. 1993;15:392–9.PubMed
2.
Wechsler J, Greene M, McDevitt MA, et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet. 2002;32:148–52.CrossRefPubMed
3.
Cabelof DC, Patel HV, Chen Q, et al. Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome. Blood. 2009;114:2753–63.PubMed
4.
Harigae H, Xu G, Sugawara T, Ishikawa I, Toki T, Ito E. The GATA1 mutation in an adult patient with acute megakaryoblastic leukemia not accompanying Down syndrome. Blood. 2004;103:3242–3.CrossRefPubMed
5.
Richards M, Welch J, Watmore A, Readett D, Vora AJ. Trisomy 21 associated transient neonatal myeloproliferation in the absence of Down’s syndrome. Arch Dis Child Fetal Neonatal Ed. 1998;79:F215–7.CrossRefPubMed
6.
Polski JM, Galambos C, Gale GB, et al. Acute megakaryoblastic leukemia after transient myeloproliferative disorder with clonal karyotype evolution in a phenotypically normal neonate. J Pediatr Hematol Oncol. 2002;24:50–4.CrossRefPubMed
7.
Apollonsky N, Shende A, Ouansafi I, et al. Transient myeloproliferative disorder in neonates with and without Down syndrome: a tale of 2 syndromes. J Pediatr Hematol Oncol. 2008;30:860–4.CrossRefPubMed
8.
Sandoval C, Pine SR, Guo Q, et al. Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature. Pediatr Blood Cancer. 2005;44:85–91.CrossRefPubMed
9.
Cushing T, Clericuzio CL, Wilson CS, et al. Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder. J Pediatr. 2006;148:687–9.CrossRefPubMed
10.
Carpenter E, Valverde-Garduno V, Sternberg A, et al. GATA1 mutation and trisomy 21 are required only in haematopoietic cells for development of transient myeloproliferative disorder. Br J Haematol. 2005;128:548–51.CrossRefPubMed
11.
Magalhães IQ, Splendore A, Emerenciano M, et al. Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation. J Pediatr Hematol Oncol. 2005;27:50–2.CrossRefPubMed
12.
Rainis L, Bercovich D, Strehl S, et al. Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. Blood. 2003;102:981–6.CrossRefPubMed
13.
Mercher T, Coniat MB, Monni R, et al. Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia. Proc Natl Acad Sci USA. 2001;98:5776–9.CrossRefPubMed
14.
Hoskote A, Chessells J, Pierce C. Transient abnormal myelopoiesis (TAM) causing multiple organ failure. Intensive Care Med. 2002;28:758–62.CrossRefPubMed
15.
Schwab M, Niemeyer C, Schwarzer U. Down syndrome, transient myeloproliferative disorder, and infantile liver fibrosis. Med Pediatr Oncol. 1998;31:159–65.CrossRefPubMed
16.
Rizzari C, Malberti R, Dell’Orto M, et al. Transient myeloproliferative disorder associated with trisomy 21: is a short course of chemotherapy indicated in patients with liver impairment and severe clinical problems? Med Pediatr Oncol. 1999;32:453–4.CrossRefPubMed
17.
Chou ST, Opalinska JB, Yao Y, et al. Trisomy 21 enhances human fetal erythro-megakaryocytic development. Blood. 2008;112:4503–6.CrossRefPubMed
18.
Groet J, Mulligan C, Spinelli M, et al. Independent clones at separable stages of differentiation, bearing different GATA1 mutations, in the same TMD patient with Down syndrome. Blood. 2005;106:1887–8.CrossRefPubMed
19.
Kanegane H, Watanabe S, Nomura K, et al. Distinct clones are associated with the development of transient myeloproliferative disorder and acute megakaryocytic leukemia in a patient with Down syndrome. Int J Hematol. 2007;86:250–2.CrossRefPubMed
20.
Hellebostad M, Carpenter E, Hasle H, Mitchell C, Vyas P. GATA1 mutation analysis demonstrates two distinct primary leukemias in a child with Down syndrome; implications for leukemogenesis. J Pediatr Hematol Oncol. 2005;27:408–9.CrossRefPubMed
Metadata
Title
Transient abnormal myelopoiesis in a cytogenetically normal neonate
Authors
Kentaro Yanase
Keisuke Kato
Nobuko Katayama
Yoko Mouri
Chie Kobayashi
Junko Shiono
Masakazu Abe
Ai Yoshimi
Kazutoshi Koike
Jun-ichi Arai
Masahiro Tsuchida
Publication date
01-10-2010
Publisher
Springer Japan
Published in
International Journal of Hematology / Issue 3/2010
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-010-0646-1

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