Targeted next-generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical...

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.