Spliceosome mutations linked to improved outcomes in stem cell transplants for MDS and CMML

Patients with myelodysplastic syndrome (MDS) and chronic myelomonocytic leukemia (CMML) with spliceosome mutations who undergo allogeneic hematopoietic cell transplantation (allo-HCT) have significantly better overall survival (OS) and lower non-relapse mortality (NRM) compared to those without these mutations, according to a study.

This single-institution, retrospective study analyzed the outcomes of 258 patients who underwent allo-HCT, focusing on those with spliceosome mutations. Molecular profiling was available for 126 patients, with 45.2% carrying spliceosome mutations. The study compared OS, relapse-free survival, NRM, and graft-versus-host disease (GVHD) between spliceosome-mutated and non-mutated groups.

Patients with spliceosome mutations had a significantly better 2-year survival rate of 83.8%, compared to 55.9% in those without these mutations. They also experienced higher progression-free survival rates—73.7% versus 50% for non-mutated patients. In addition, the rate of NRM was lower in the spliceosome mutation group at 10.4%, compared to 31.5% in the non-mutated group. There were no notable differences in relapse rates or the incidence of GVHD between the groups.

Reference
Desai A, Samara Y, Yang D, et al. Impact of spliceosome mutation on outcomes of myelodysplastic syndrome and chronic myelomonocytic leukemia patients undergoing allogeneic hematopoietic cell transplantation. Leuk Res. 2024;145:107565. doi: 10.1016/j.leukres.2024.107565. Epub ahead of print. PMID: 39208597.