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Myelodysplastic Syndrome

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Precision Molecular Pathology of Myeloid Neoplasms

Part of the book series: Molecular Pathology Library ((MPLB,volume 12))

Abstract

Myelodysplastic syndromes (MDS) are a group of hematopoietic stem cell neoplasms with ineffective bone marrow (BM) hematopoiesis characterized by morphologic dysplasia in at least one lineage of myeloid, erythroid, and megakaryocytic cells and peripheral blood (PB) cytopenia(s), as well as an increased risk of progression to acute myeloid leukemia. In the past, the diagnosis of MDS mainly relied on three factors: (1) BM morphology, (2) PB cytopenia(s), and (3) MDS-defining cytogenetic abnormalities. The emergence of next-generation sequencing technique has resulted in significant progress in the discovery of recurrent somatic mutations in MDS which has further advanced our understanding of MDS. All these have contributed to the classification, diagnosis, and prognosis of MDS and shaped the 2016 updates of the World Health Organization (WHO) classification of MDS. This chapter discusses the clinicopathologic features, cytogenetic and molecular features, diagnosis, and prognosis of MDS with a focus on the cytogenetic and molecular progress and the new 2016 updates of the WHO classification.

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Correspondence to C. Cameron Yin .

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Li, S., Yin, C.C. (2018). Myelodysplastic Syndrome. In: Chang, CC., Ohgami, R. (eds) Precision Molecular Pathology of Myeloid Neoplasms. Molecular Pathology Library, vol 12. Springer, Cham. https://doi.org/10.1007/978-3-319-62146-3_4

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  • DOI: https://doi.org/10.1007/978-3-319-62146-3_4

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