Molecular Data and the IPSS-R: How Mutational Burden Can Affect Prognostication in MDS

Curr Hematol Malig Rep. 2017 Oct;12(5):461-467. doi: 10.1007/s11899-017-0407-9.


Purpose of review: The purpose of this study is to review established prognostic models in myelodysplastic syndromes (MDS) and describe how molecular data can be used to improve patient risk stratification.

Recent findings: Somatic mutations are common in MDS and are associated with disease features including outcomes. Several recurrently mutated genes have prognostic significance independent of risk stratification tools used in practice. However, this prognostic impact can depend on the clinicogenetic context in which mutations occur. Qualitatively, SF3B1 mutations appear favorable only in patients with < 5% bone marrow blasts while mutations of several genes, including ASXL1, SRSF2, U2AF1, NRAS, and IDH2, appear adverse in this context. Mutations of TP53, RUNX1, and EZH2 appear adverse regardless of blast percentage. Consensus on how to best incorporate mutations into risk assessment is still being developed. Somatic mutations can refine risk stratification and improve the accuracy of existing prognostic models, often upstaging or downstaging patients across the boundary of higher- and lower-risk MDS.

Keywords: Genetic testing; Myelodysplastic syndromes; Prognosis; Somatic mutations.

Publication types

  • Review

MeSH terms

  • Humans
  • Models, Biological*
  • Mutation*
  • Myelodysplastic Syndromes / diagnosis*
  • Myelodysplastic Syndromes / genetics*
  • Prognosis
  • Risk Assessment
  • Risk Factors