Clinical Edge

Summaries of Must-Read Clinical Literature, Guidelines, and FDA Actions

Targeted Next-Generation Sequencing in MDS

Am J Hematol; ePub 2017 Sep 5; Tefferi, et al

Targeted next-generation sequencing (NGS) could help clinicians make decisions about treating patients with lower risk myelodysplastic syndrome (MDS), according to a study involving 179 individuals. Investigators used a 27-gene panel for NGS in participants with primary MDS. Among the results:

  • At least 1 mutation/variant was seen in 82% of patients.
  • Nearly one-fourth had ≥3 mutations/variants.
  • 83% of patients died and 15% experienced leukemic transformations over a median follow-up of 30 months.
  • ASXL1, SETBP1, and TP53 were found to be risk factors for overall survival, and SRSF2, IDH2, and CSF3R were identified as such for leukemia-free survival.
  • 4 in every 10 patients had at least 1 adverse mutation/variant for overall survival.
  • 2 in every 10 had at least 1 such mutation/variant for leukemia-free survival.
  • The number of mutations/variants did not improve prognostic value.
  • Survival impact of adverse mutations was most evident in IPSS-R very low/low risk patients.


Tefferi A, Lasho T, Patnaik M, et al. Targeted next-generation sequencing in myelodysplastic syndromes and prognostic interaction between mutations and IPSS-R. [Published online ahead of print September 5, 2017]. Am J Hematol. doi:10.1002/ajh.24901.