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

Predicting Patient Relapse After Allogeneic Hematopoietic Stem Cell Transplantation: A Comparison of Measurable Residual Disease (MRD) Assessment by Digital Polymerase Chain Reaction and Conventional MRD

A research investigation into the efficacy of digital Polymerase Chain Reaction (dPCR) for monitoring measurable residual disease (MRD) during allogeneic hematopoietic stem cell transplantation, with a focus on predicting relapse in patients diagnosed with leukemia, myelodysplastic syndromes (MDS), and related hematological conditions.

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