Assessment of Measurable Residual Disease in Allo-HSCT Using Digital Polymerase Chain Reaction

This prospective clinical study focuses on patients diagnosed with leukemia, myelodysplastic syndromes (MDS), and related hematological conditions post-allogeneic hematopoietic stem cell transplantation. The primary objective is to assess the efficacy of digital Polymerase Chain Reaction (dPCR) in monitoring measurable residual disease (MRD), including markers such as BCR::ABL, KMT2A, etc., as compared to other MRD monitoring methods such as conventional quantitative PCR or multicolor Flow Cytometry (MFC). Key endpoints include the recurrence of MRD using conventional methods, hematological relapse, disease-free survival, overall survival, and non-relapse mortality.

Inclusion criteria

• The presence of at least one fusion gene or hematological tumor-associated mutation detected at diagnosis by NGS or real-time PCR provided for posttransplant MRD monitoring.
• Neutrophil engraftment
• Received at least one MRD monitoring by digital PCR after HSCT

Exclusion criteria

• Patients who relapsed or died before the first digital PCR monitoring
• Patients only with mutations in DNMT3A, TET2, and ASXL1 ("DTA mutations") or only germline mutations