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Gene expression signatures of pediatric myelodysplastic syndromes are associated with risk of evolution into acute myeloid leukemia

Leukemia volume 26, pages 1717–1719 (2012)Cite this article

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Childhood myelodysplastic syndromes (MDS) are a heterogeneous group of stem cell disorders characterized by peripheral blood cytopenia, ineffective hematopoiesis, hyper- or hypocellular bone marrow (BM) and propensity to evolve into acute myeloid leukemia (AML) in approximately 30–40% of cases.1, 2, 3

Childhood MDS are rare diseases and several differences between adult and pediatric MDS have been recognized.1 MDS in pediatric patients is classified, using morphological criteria, into refractory cytopenia of childhood (RCC), refractory anemia with excess of blasts (RAEB) and RAEB in transformation (RAEB-t). Different from adult MDS classification according to World Health Organization (WHO) indications, pediatric MDS patients with a blast count of 20–30% are classified as MDS and not as AML. As relative blasts count alone is not sufficient to differentiate AML from MDS, morphological evaluation remains crucial for diagnosis of MDS.1

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Acknowledgements

This work was supported by grants from Fondazione Città della Speranza, Padova, Italy (GB, MG), Associazione Italiano Ricerca sul Cancro (GteK, FI, GB), PRIN/programmi di ricerca rilevante interesse nazionale, Roma (GteK, GB). We thank Marta Campo Dell’ Orto for initial study design, Ken Mills for discussing DC model data of pediatric MDC specimens and Anna Leszl for providing cytogenetic data.

Author contributions

SB, GteK wrote the manuscript; SB, LT and MG performed the experiments and analyzed the data; SB designed the study and the experiments; MZ, LS collected patient data and coordinated morphological evaluation of MDS subtypes; FL, GB and GteK supervised the study; FL, GB revised the manuscript.

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Authors and Affiliations

  1. Department of Pediatrics, SSD Ematologia-Clinica Sperimentale, University of Padova, Padova, Italy

    S Bresolin, L Trentin, M Giordan, L Sainati, G Basso & G te Kronnie

  2. Department of Pediatrics and Adolescent Medicine, University of Ulm, Ulm, Germany

    L Trentin

  3. Pediatric Hematology and Oncology, Fondazione IRCCS Policlinico ‘San Matteo’, Pavia, Italy

    M Zecca

  4. Department of Pediatrics Hematology-Oncology, IRCSS Ospedale Pediatrico Bambino Gesù, Roma, Università di Pavia, Pavia, Italy

    F Locatelli

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  1. S Bresolin
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  2. L Trentin
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  5. L Sainati
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  8. G te Kronnie
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Correspondence to S Bresolin.

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Bresolin, S., Trentin, L., Zecca, M. et al. Gene expression signatures of pediatric myelodysplastic syndromes are associated with risk of evolution into acute myeloid leukemia. Leukemia 26, 1717–1719 (2012). https://doi.org/10.1038/leu.2012.35

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