Potential pitfalls in multiplex PCR-based next-generation sequencing: a case-based report

被引：0
|
作者：
Tung, Jack K. [1 ]
Devereaux, Kelly A. [2 ]
Erdmann, Archana Lal [3 ]
Schrijver, Iris [1 ]
Zehnder, James [1 ]
Suarez, Carlos J. [1 ]
机构：
[1] Stanford Univ, Dept Pathol, Sch Med, Stanford, CA 94305 USA
[2] NYU, Dept Pathol, Grossman Sch Med, 550 1St Ave, New York, NY 10016 USA
[3] GeneCode, Mountain View, CA USA
来源：
JOURNAL OF CLINICAL PATHOLOGY | 2023年 / 76卷 / 01期
关键词：
pathology; molecular; medical oncology; genes; neoplasm; genetics; MUTATIONS; AMPLICON; PRIMER;
D O I：
10.1136/jclinpath-2021-208105
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
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.
引用
收藏
页码：59 / 63
页数：5
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