Tianjin Med J ›› 2018, Vol. 46 ›› Issue (8): 808-810.doi: 10.11958/20181115

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The clinical significance of gene mutation detection in myelodysplastic syndromes

CHEN Su-ning, YU Yan   

  1. The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology, Suzhou 215006, China
  • Received:2018-07-23 Revised:2018-07-24 Published:2018-08-15 Online:2018-08-23

Abstract:  Myelodysplastic syndrome (MDS), a clonal disease that arises from the expansion of mutated hematopoietic stem cells or hematopoietic progenitor cells, is usually characterized by a clinically and biologically heterogeneous group of disorders associated with cytopenias, ineffective hematopoiesis, and a tendency to evolve into acute myeloid leukemia. Currently, the diagnosis of MDS relies mainly on the morphologic and cytogenetic abnormalities. With the advance of the next generation sequencing, genetic mutations have been identified in majority of MDS patients. Here we briefly review the clinical significance of genetic mutations in the diagnosis, classification, risk stratification and treatment of MDS.

Key words: myelodysplastic syndrome, next generation sequencing (NGS), clonal hematopoiesis, mutation