State of the art: approaches for the diagnosis of myelodysplastic syndromes

Abstract

The myelodysplastic syndromes (MDS) are a group of clonal myeloid neoplasms characterized by ineffective hematopoiesis, manifested by morphologic dysplasia in hematopoietic cells and by peripheral cytopenia. The first classification was proposed by the French-American-British(FAB) cooperative group in 1982 based on morphologic dysplasia.In 2001, World Health Organization (WHO) proposed an alternative classification for MDS, since then, the WHO classification has been updated twice, once in 2008 and again in 2016. Therefore, the diagnostic mode of MDS has evolved from a simple morphology model to the current morphology, immunology, cytogenetics, and molecular biology (MICM) model. The author intends to systematically introduce the role and status of the MICM model in the diagnosis of MDS, including accurate assessment of cell morphology, flow cytometry immunophenotyping, cytogenetics, and improved genetic mutation analysis.Meanwhile the main problems and future development directions of MDS were also reviewed with the author′s clinical experience and personal views. Key words: Myelodysplastic syndromes; Myeloid cells; Diagnosis; Immunophenotyping; Cytogenetics; Mutation; Morphology