Integrating Genomics in Myelodysplastic Syndrome to Predict Outcomes After Allogeneic Hematopoietic Cell Transplantation

Clin Lymphoma Myeloma Leuk. 2017 Jan;17(1):7-13. doi: 10.1016/j.clml.2016.09.005. Epub 2016 Sep 16.


Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematopoietic neoplastic disorders most commonly occurring in the elderly population; MDS has a tendency to progress to acute leukemia. Although epigenetic therapies have improved the outcomes of MDS patients, allogeneic hematopoietic cell transplantation remains the only curative option. Molecular characterization of MDS using next-generation sequencing has expanded not only the knowledge on MDS but also the depth of understanding of evolution and contribution of recurrent somatic mutations in precursor conditions. Rapidly evolving genomic information on MDS may provide clinicians with better risk stratification tools and may also aid in supplying useful information to allow comprehensive therapeutic decision making for MDS patients. In this concise review, we summarize the current knowledge and understanding of recurrent somatic mutations in MDS and discuss salient genomic information predicting response and influencing therapeutic outcomes in the context of allogeneic hematopoietic cell transplantation, as well as the potential application of these findings into future clinical practice.

Keywords: Hematopoietic cell allografting; MDS; Next generation sequencing; Somatic mutation; Survival.

Publication types

  • Review

MeSH terms

  • Genomics / methods
  • Hematopoietic Stem Cell Transplantation / methods
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Mutation
  • Myelodysplastic Syndromes / drug therapy*
  • Myelodysplastic Syndromes / genetics*
  • Risk