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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Targeted next-generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical

B Maes1, J Willemse1,2, A Broekmans1

  • 1Department of Clinical Biology, Jessa Ziekenhuis, Hasselt, Belgium.

International Journal of Laboratory Hematology
|July 20, 2017
PubMed
Summary

Next-generation sequencing (NGS) effectively detects mutations in myeloid neoplasms (MNs), improving diagnosis and prognosis. This targeted NGS approach aids in classifying MN subentities and offers independent prognostic information.

Keywords:
clinical validationmolecular diagnosticsmyeloid neoplasmtargeted next-generation sequencing

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Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Mutation detection in myeloid neoplasms (MNs) is crucial for diagnosis and prognosis.
  • Next-generation sequencing (NGS) is a key technology for profiling MN subgroups.

Purpose of the Study:

  • To validate a targeted NGS approach for myeloid neoplasms.
  • To assess the utility of NGS in diagnosing and classifying MNs.

Main Methods:

  • Validated a targeted NGS approach using the TruSight Myeloid panel.
  • Screened 287 patients with suspected MN and 61 with documented MN.

Main Results:

  • NGS workflow achieved high precision, accuracy, sensitivity, and specificity for variants with ≥5% allele frequency and 300x read depth.
  • Identified somatic mutations in 89% of patients with proven MN, with 81% of newly diagnosed cases showing mutations.
  • Gene mutation co-occurrence aids MN classification, and mutations offer independent prognostic value.

Conclusions:

  • Pan-myeloid targeted NGS integrates seamlessly into routine MN diagnostics.
  • This approach enhances MN diagnosis, subclassification, and prognostic assessment.