Journal de la leucémie
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Myelodysplastic Syndromes and Other Precursor Myeloid Neoplasms in the Era of Genomic Medicine (Mini Review)

Ling Zhang and Lynh Nguyen

Myeloid neoplasm are derived from precursor cells of myeloid lineage and are composed of a broad spectrum of hematopoietic malignancies. The nature of the myeloid precursors is largely under-investigated until the recent application of next generation sequencing (NGS) technology for genome-wide analysis of myeloid neoplasms. It is important to define precursor myeloid neoplasms mediated by molecular signatures including driver gene mutations essential in disease initiation as well as acquired genetic alterations that play a role in disease progression. In addition to myelodysplastic syndrome with a high risk of leukemic transformation, there are newly proposed early precursor disorders with the potential to evolve into myeloid neoplasms [e.g., clonal hematopoiesis of indeterminate potential (CHIP), and clonal cytopenias of undetermined significance (CCUS)]. Furthermore, certain predisposing germline mutations (e.g. CEBPA, DDX41, RUNX1, ETV6 and GATA) have been recognized with predisposition to develop into myeloid neoplasms. This review paper aims to provide a brief summary of novel concepts of early precursor lesions that could lead to myeloid neoplasms, potential molecular prognostic indicators for MDS, and updated sub-classification of myelodysplastic syndromes according to the 2016 revision of World Health Organization (WHO).