This prospective observational study aims to evaluate the clinical significance of measurable residual disease (MRD) monitoring using digital PCR (dPCR) in patients with acute myeloid leukemia (AML) following allogeneic hematopoietic stem cell transplantation (allo-HSCT). The study will specifically enroll patients harboring clonal hematopoiesis (CH) and/or myelodysplasia-related (MR) gene mutations.
Patient-specific dPCR assays will be established to enable highly sensitive, longitudinal quantification of mutation burden. Serial assessments will be performed at predefined time points within the first 12 months after transplantation. The study will investigate the prognostic value of dPCR-based MRD dynamics for predicting relapse, relapse-free survival, and overall survival, and will further explore its potential to enable earlier detection of molecular relapse compared with conventional methods.
Diagnosis of acute myeloid leukemia (AML).
Undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT) at the investigating center.
Negative for recurrent fusion genes routinely monitored in the clinical laboratory, including but not limited to AML1::ETO, CBFB::MYH11, KMT2A (MLL) rearrangements, NUP98::NSD1, NUP98::HOXA9, FUS::ERG, DEK::NUP214, SET::NUP214, PICALM::AF10, and BCR::ABL1.
Availability of next-generation sequencing (NGS) results at initial diagnosis with accessible original reports.
Patients with mutation profiles unsuitable for the design of patient-specific digital PCR (dPCR) assays achieving a sensitivity of ≤0.1%.
Absence of evaluable molecular targets for longitudinal MRD monitoring.
AML patients who underwent allo-HSCT, specifically those lacking common fusion genes and NPM1 mutations but carrying CH and/or MR gene mutations.
Cohort
Prospective
Individualized Digital PCR (dPCR) monitoring
Diagnostic testBone marrow samples are collected at 0, 1, 2, 3, 4.5, 6, 9, and 12 months post-HSCT. DNA is extracted and specific CH/MR mutation burden is quantified using individualized dPCR primer/probe systems.
Cumulative Incidence of Relapse (CIR)
CIR is defined as the time from transplantation to hematologic or extramedullary relapse
Overall Survival (OS)
The time from HSCT to the Death from any cause
Relapse-free survival (RFS)
The time from the date of HSCT to the occurrence of any of the following: Death from any cause Disease recurrence
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