Minimal residual disease
Individualized insights to monitor disease progression
For patients diagnosed with acute myeloid leukemia (AML), which is the second most common type of leukemia, monitoring for measurable, or minimal residual disease (MRD) is a critical component of establishing prognosis and predicting therapeutic response. MRD testing performed at diagnosis as well as after treatment, which can include hematopoietic stem cell transplant, provides physicians key information to:
Cytogenic findings typically revealed through diagnostic testing are most often used to understand disease prognosis. Among patients with genetic alterations, those with an NPM1 mutation in the absence of FLT3-ITD are associated with more favorable prognoses. Identification of NPM1 can help evaluate MRD and therapeutic response following treatment.
Full-spectrum MRD testing in one laboratory
The Molecular Hematopathology Laboratory at Mayo Clinic has developed several MRD evaluations that align with guidelines published by the National Comprehensive Cancer Network (NCCN)1 and European LeukemiaNet (ELN). 2
Our NPM1Q MRD test is a combination test that includes a highly sensitive quantitative reverse transcription polymerase chain reaction (RT-PCR) assay that detects and quantifies the most common types of NPM1 variations (A, B, and D) on the messenger RNA transcript level; and a DNA-based qualitative NPM1 exon 11 mutation screening by fragment analysis that detects all altered forms in AML.
The implementation of complementary testing platforms translates into a combined testing approach for MRD that enables detection of essentially all NPM1 mutations reported in AML, including the rare types.
When to consider testing
For AML patients identified as having an NPM1 mutation, MRD testing is recommended2 at:
Enhanced detection of genetic mutation to optimize leukemia treatment
Mayo Clinic hematopathologist Rong He, M.D., discusses Mayo Clinic Laboratories’ innovative approach to monitoring measurable residual disease in patients with acute myeloid leukemia. The combination assay uses dual testing methodologies to identify genetic biomarkers associated with disease presence.
Beyond the test result
The Molecular Hematopathology Laboratory at Mayo Clinic offers a comprehensive suite of MRD testing, enabling full-spectrum testing under one laboratory roof. Staffed by experienced laboratory scientists who are well-versed in testing nuances, our laboratory experts provide content expertise to support testing decisions and results.