AML – FLT3 ITD MRD Assay

• Description of Test:

  To track and identify previously detected FLT3 ITD mutations in post-treatment follow-up samples, a multiplex master mix targeting the juxtamembrane domain of the FLT3 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 an allelic sensitivity level of 5 x 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 fms-like tyrosine kinase 3 (FLT3) gene are the most prevalent mutations found in acute myeloid leukemia (AML) and are characterized by an aggressive phenotype with a high prevalence of relapse.¹  Internal tandem duplication (ITD) mutations within the juxtamembrane domain are the most common mutations of FLT3.²  The development of a sensitive and specific assay for FLT3 ITD mutations represents a significant advancement in guiding treatment decisions.

  LabPMM’s FLT3 ITD MRD test is an NGS-based, targeted, deep-sequencing assay that detects ITDs ranging from 3 bp to over 200 bp in size.  Once a specific ITD (length and sequence) has been identified in a primary sample, it can easily be tracked in subsequent samples at a sensitivity of 5 x 10^-5, provided sufficient DNA quantity is tested.

  The treatment of AML has become a paradigm for precision medicine.  This MRD assay is at least two orders of magnitude more sensitive than other commercially available FLT3 assays.  It detects the persistence of a driver mutation, FLT3 ITD, in patients with no overt evidence of disease, allowing clinicians to identify those patients that can benefit from continuation or modification of treatment.³

  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.

Service Details

• Indications for Testing:
  • Stratifying risk for AML recurrence
  • Monitor internal tandem duplications (ITD) mutations in the FLT3 gene and evaluate for disease recurrence
• CPT Codes:

  PLA Code:

  • 0046U
• Service Description: