CAT #: NPM1 MRD

NPM1 MRD Testing by NGS

  • Description of Test:

    To track and identify previously detected NPM1 mutations in post treatment follow up samples, a multiplex master mix targeting exon 12 on the NPM1 gene is used to amplify DNA extracted from a patient sample.

    Next-generation sequencing of the PCR products is used to identify DNA sequences specific to previously identified mutations detected at diagnosis. Bioinformatics tools facilitate the detection of these specific sequences present at two levels of sensitivity.

    The assay requires a sample taken at diagnosis as well as the post treatment follow up samples. If the patient has previously been tested by LabPMM for NPM1 mutation, no diagnosis sample is needed.

    • The sensitive assay reliably detects sequences present at 5×10-5.
  • Overview:

    Minimal residual disease (MRD) detection in patients with leukemia has proven to be useful in the clinical management of disease and can facilitate the development of new therapies.

    Mutations in the nucleophosmin (NPM1) gene represent some of the most common gene mutations in AML. NPM1 mutations predominantly occur in AML with normal cytogenetic and are of prognostic value, in particular within the context of FLT3 ITD mutations. Furthermore, because NPM1 presents a homogeneous mutation pattern, this gene represents an attractive target for MRD monitoring.

    LabPMM’s NPM1 MRD test is a NGS-based targeted deep sequencing assay that can be used to sensitively detect NPM1 mutations that were previously identified in a primary sample.

    MRD detection by Next-Generation Sequencing has demonstrated utility in predicting clinical outcomes and in generating clinically actionable results allowing early intervention, confirmation of disease status prior to transplant, and increased confidence in remission status.

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References

  1. Falini B. et al. (2005) Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med 352:254–266.
  2.  Krönke J. et al. (2011) Monitoring of minimal residual disease in NPM1-mutated acute myeloid leukemia: a study from the German-Austrian acute myeloid leukemia study group. J Clin Oncol 29:2709-2716

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