The risk of disease progression was greater in patients with myelodysplastic syndrome (MDS) who had disease-related mutations that persisted 30 days after transplantation for treatment of MDS than in patients without persistent disease-related mutations, according to a recent exploratory analysis in the New England Journal of Medicine.

Allogeneic hematopoietic stem-cell transplantation (ASCT) remains the only curative therapy for patients with MDS, though the molecular predictors of post-transplantation disease progression have not been well established. To address this, researchers sequenced bone marrow and skin samples from 90 patients with MDS who underwent a myeloablative or reduced-intensity conditioning regimen followed by ASCT. Researchers next assessed mutation clearance via error-corrected sequencing to classify mutations from bone marrow samples 30 days after transplantation.

The presence of at least 1 persistent mutation 30 days after ASCT was associated with a higher risk of disease progression compared with no mutation (53.1% vs 13.0%; conditioning regimen-adjusted hazard ratio [HR], 3.86; 95% CI, 1.96-7.62; P <.001). Persistent mutation was also associated with a reduced 1-year rate of progression-free survival (PFS) compared with no mutation (31.3% vs 59.3%; conditioning regimen-adjusted HR for progression or death, 2.22; 95% CI, 1.32-3.73; P =.005).

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Additionally, the rate of PFS was lower in patients who underwent reduced-intensity conditioning and had at least 1 persistent mutation at 30-days post-ASCT compared with patients who underwent other conditioning regimens and had different mutation status (P ≤.001).

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Multivariate analysis confirmed these results, showing that patients with a mutation at day 30 experienced a higher risk of disease progression (HR, 4.48; 95% CI, 2.21 to 9.08; P <.001) and a lower rate of 1-year PFS (HR for progression or death, 2.39; 95% CI, 1.40-4.09; P =.002) than patients with no mutation post-ASCT.

“Although this exploratory study has limitations, our results suggest that sequencing-based detection of tumor cells and measurable residual disease after allogeneic hematopoietic stem-cell transplantation has prognostic significance for patients with MDS,” concluded the authors.


1. Duncavage EJ, Jacoby MA, Chang GS, et al. Mutation clearance after transplantation for myelodysplastic syndrome. N Engl J Med. 2018;379(11):1028-1041.