CAT #: NPM1 MRD

AML – NPM1 MRD Assay

  • Description of Test:

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

    To identify and track 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.  PCR products are sequenced to identify DNA sequences specific to previously identified mutations detected at diagnosis.  Bioinformatics tools are used to reliably detect specific sequences present at an allelic sensitivity level of 5 x 10-5.

  • Overview:

    Minimal residual disease (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.

    Mutations in the nucleophosmin (NPM1) gene represent some of the most prevalent gene mutations in AML.1  NPM1 mutations predominantly occur in AML with normal cytogenetics and are of prognostic value, especially within the context of FLT3 ITD mutations.  Furthermore, because NPM1 displays a homogeneous mutation pattern, this gene represents an attractive target for MRD monitoring.2

    MRD testing in patients with leukemia is useful for the clinical management of disease, and can facilitate the development of new therapies.

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References

  1. Falini, B et al. (2005) New England Journal of Medicine. 352:254–266.
  2. Krönke, J et al. (2011) Journal of Clinical Oncology. 29:2709-2716.

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