| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Enhanced detection of genetic mutation to optimize leukemia treatment
Answers from the Lab
About 30% of people with acute myeloid leukemia, or AML, have a genetic mutation known as NPM1. Identifying a patient’s AML subtype is key for optimal treatment. But the NPM1 mutation has many forms, and standard RNA-based quantitative testing detects only the most common ones. In this test specific episode of the "Answers From the Lab" podcast, Rong He, M.D., describes how Mayo Clinic Laboratories’ NPM1Q assay improves upon current testing by detecting essentially all known NPM1 mutant forms.
“The quantitative test usually evaluates only the three most-common mutation types, which cover about 90% of all NPM1-mutated AML cases,” Dr. He says. “A rare NPM1 mutation type may show up as falsely negative or a low positive. That erroneous result may lead to suboptimal patient management.”
Mayo Clinic Laboratories’ NPM1Q assay has two concurrently performed components:
“This combined approach detects essentially all NPM1 mutant forms reported in AML, including the rare types,” Dr. He says. “The two platforms complement each other.”
The assay is performed in peripheral blood and bone marrow samples. Testing is recommended as part of the initial diagnosis of AML, and as monitoring during and after treatment.
“We know that patients who have achieved complete remission by morphology can still harbor a large number of leukemia cells in the bone marrow,” Dr. He says. “NPM1 has been shown to be a reliable and stable biomarker of measurable residual disease.” So people should use the test.
“We know that patients who have achieved complete remission by morphology can still harbor a large number of leukemia cells in the bone marrow,” Dr. He says. “NPM1 has been shown to be a reliable and stable biomarker of measurable residual disease. Testing helps to refine outcome prediction and inform the choice of post-remission therapy.”
NPM1Q is one of four tests offered by Mayo Clinic Laboratories to monitor residual disease in patients with AML. Dr. He notes that the translocation 8;21 and inversion 16 testing should be performed at time points similar to NPM1Q testing.
Listen to learn more about how Mayo Clinic Laboratories’ NPM1Q assay can improve the treatment of AML.
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As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia with normal karyotype and no FLT3 variant and as a leukemia-specific marker of minimal residual disease.
Submit only 1 of the following specimens:
Specimen Type: Blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD-B)
Specimen Volume: 10 mL
Collection Instructions:
Specimen Type: Bone marrow
Container/Tube: Lavender top (EDTA) or yellow top (ACD-B)
Specimen Volume: 4 mL
Collection Instructions:
Analytic time: 10 - 14 days
Days performed: Monday through Friday
