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Background The mixed-lineage leukemia ( MLL ) gene is located on chromosome 11q23. The MLL gene can be rearranged to generate partial tandem duplications (MLL-PTD), which occurs in about 5-10% of acute myeloid leukemia (AML) with a normal karyotype and in 5-6% of myelodysplastic syndrome (MDS) patients. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is currently one of the curative therapies available for AML and MDS with excess blasts (MDS-EB). However, how the prognosis of patients with high levels of  MLL -PTD after allo-HSCT, and whether  MLL -PTD could be used as a reliable indicator for minimal residual disease (MRD) monitoring in transplant patients remains unknown. Our study purposed to analyze the dynamic changes of  MLL -PTD peri-transplantation and the best threshold for predicting relapse after transplantation. Methods We retrospectively collected the clinical data of 48 patients with  MLL -PTD AML or MDS-EB who underwent allo-HSCT in Peking University People’s Hospital. The  MLL -PTD was examined by real-time quantitative polymerase chain reaction (RQ-PCR) at the diagnosis, before transplantation and the fixed time points after transplantation. Detectable  MLL -PTD/ABL &gt; 0.08% was defined as  MLL -PTD positive in this study. Results The 48 patients included 33 AML patients and 15 MDS-EB patients. The median follow-up time was 26(0.7-56) months after HSCT. In AML patients, 7 patients (21.2%) died of treatment-related mortality (TRM), 6 patients (18.2%) underwent hematological relapse and died ultimately. Of the 15 patients with MDS-EB, 2 patients (13.3%) died of infection. The 3-year cumulative incidence of relapse (CIR), overall survival (OS), disease-free survival (DFS) and TRM were 13.7 ± 5.2, 67.8 ± 6.9, 68.1 ± 6.8 and 20.3% ± 6.1%, respectively. ROC curve showed that post-transplant  MLL -PTD ≥ 1.0% was the optimal cut-off value for predicting hematological relapse after allo-HSCT. There was statistical difference between post-transplant  MLL -PTD ≥ 1.0% and  MLL -PTD &lt; 1.0% groups (3-year CIR: 75% ± 15.3% vs. 0%,  P  &lt; 0.001; 3-year OS: 25.0 ± 15.3% vs. 80.7% ± 6.6%,  P  &lt; 0.001; 3-year DFS: 25.0 ± 15.3% vs. 80.7 ± 6.6%,  P  &lt; 0.001; 3-year TRM: 0 vs. 19.3 ± 6.6%,  P  = 0.277). However, whether  MLL -PTD ≥ 1% or  MLL -PTD &lt; 1% before transplantation has no significant difference on the prognosis. Conclusions Our study indicated that  MLL -PTD had a certain stability and could effectively reflect the change of tumor burden. The expression level of  MLL -PTD after transplantation can serve as an effective indicator for predicting relapse.

bmc cancer

Monitoring of post-transplant MLL-PTD as minimal residual disease can predict relapse after allogeneic HSCT in patients with acute myeloid leukemia and myelodysplastic syndrome