Our Molecular Hematopathology Laboratory has developed several minimal residual disease (MRD) evaluations that align with guidelines published by the National Comprehensive Cancer Network (NCCN)1 and European LeukemiaNet (ELN).2 Staffed by experienced laboratory scientists who are well-versed in testing nuances, our laboratory experts provide content expertise to support testing decisions and results.
Minimal residual disease Test menu
More information
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.
When to consider testing
For AML patients identified as having an NPM1 mutation, MRD testing is recommended2 at:
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.
Key testing
Highlights
Rong He, M.D., describes how Mayo Clinic Laboratories’ NPM1Q assay detects all known forms of a genetic mutation found in about 30% of people with acute myeloid leukemia, or AML. Identifying the NPM1 mutation is critical for clinical decision-making.