Potential pitfalls in multiplex PCR-based next-generation sequencing: a case-based report. Issue 1 (10th February 2022)

• Record Type: Journal Article
• Authors: Tung, Jack K; Devereaux, Kelly A; Erdmann, Archana Lal; Schrijver, Iris; Zehnder, James; Suarez, Carlos J
• Is Part Of: Journal of clinical pathology. Volume 76:Issue 1(2023)
• Page Start: 59
• Page End: 63
• Publication Date: 2022-02-10
• Subjects: pathology -- molecular -- medical oncology -- genes -- neoplasm -- genetics; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/jclinpath-2021-208105
• Languages: English
• ISSNs: 0021-9746

Abstract

Abstract : Amplicon-based next-generation sequencing (NGS) assays employ highly sensitive, rapid, and cost-effective methods to detect clinically actionable mutations for the diagnosis, prognosis, and treatment of patients with cancer. However, recognition of certain limitations inherent to amplicon-based NGS assays is crucial for the correct interpretation and reporting of variants in the clinical setting. In this report, we illustrate three different potential pitfalls related to amplicon-based NGS assays based on our institutional experience and highlight how the risk of such events can be minimised.