What are the clinical outcomes following allogeneic hematopoietic stem cell transplantation (HSCT) for myelodysplastic syndrome (MDS)?

Updated: Jul 24, 2018
  • Author: Emmanuel C Besa, MD; Chief Editor: Koyamangalath Krishnan, MD, FRCP, FACP  more...
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Answer

Lindsley et al reported that the presence of specific genetic mutations may predict clinical outcomes in patients who undergo allogeneic HSCT for MDS. [37] Their findings included the following:

  • TP53 mutations were associated with shorter survival and a shorter time to relapse.
  • RAS pathway mutations (in patients 40 years of age or older who did not have TP53 mutations) were associated with shorter survival, due to a high risk of relapse; however, the increased risk of relapse was evident only in patients who received reduced-intensity conditioning.
  • JAK2 mutations were associated with shorter survival due to a high risk of death without relapse.
  • Young adults with compound heterozygous mutations in the Shwachman-Diamond syndrome–associated SBDS gene with concurrent TP53 mutations had a poor prognosis.

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