Analytic and Clinical Validation of an Ultrasensitive, Quantitative Polymerase Chain Reaction Assay for EGFR Mutation Analysis With Circulating Tumor DNA.

Context.--The mutation analysis of epidermal growth factor receptor (EGFR) has become a common test to guide therapeutic decision making for lung cancer. Molecular testing with circulating tumor DNA in plasma allows diagnosis of mutations when tumor tissue is not available as well as monitoring trea...

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Publicado en:Archives of Pathology & Laboratory Medicine Vol. 141; no. 7; pp. 978 - 985
Autores principales: Xiaowei Wang, Yunhua Gao, Bei Wang, Zhenrong Zhang, Chaoyang Liang, Hongxiang Feng, Yongqing Guo, Jiping Da, Minli Mo, Mengyun Zhang, Feng Ding, Zhao Chen, Hui Li, Deruo Liu
Formato: research tables/charts Journal Article
Publicado: College of American Pathologists Jul2017
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Jul2017
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        atl: Analytic and Clinical Validation of an Ultrasensitive, Quantitative Polymerase Chain Reaction Assay for EGFR Mutation Analysis With Circulating Tumor DNA.
      aug:
        au:
          Xiaowei Wang
          Yunhua Gao
          Bei Wang
          Zhenrong Zhang
          Chaoyang Liang
          Hongxiang Feng
          Yongqing Guo
          Jiping Da
          Minli Mo
          Mengyun Zhang
          Feng Ding
          Zhao Chen
          Hui Li
          Deruo Liu
        affil: Department of Thoracic Surgery, China-Japan Friendship Hospital, Beijing, China
      sug:
        subj:
          Polymerase Chain Reaction Methods
          Mutation Evaluation
          Receptors, Cell Surface Analysis
          Receptors, Cell Surface Blood
          Carcinoma, Non-Small-Cell Lung Diagnosis
          Epidermal Growth Factors
          Molecular Diagnostic Techniques Evaluation
          Carcinoma, Non-Small-Cell Lung Familial and Genetic
          Validation Studies
          Sensitivity and Specificity
          Data Analysis Software
          Poisson Distribution
          Confidence Intervals
          Analysis of Variance
          T-Tests
          Predictive Value of Tests
          Human
          Funding Source
      ab: Context.--The mutation analysis of epidermal growth factor receptor (EGFR) has become a common test to guide therapeutic decision making for lung cancer. Molecular testing with circulating tumor DNA in plasma allows diagnosis of mutations when tumor tissue is not available as well as monitoring treatment response with repeat biopsies. Objectives.--To develop a timely and cost-effective assay that can accurately detect EGFR mutations in circulating tumor DNA and to evaluate the analytic and clinical performance of the assay. Design.--Analytic assessment was conducted with a set of reference materials carrying classic EGFR mutations. A recently developed Poisson distribution-based approach was employed to understand the assay sensitivity. Clinical evaluation was performed with 224 pairs of plasma and matched tissues from patients with stage I to IV disease. EGFR mutation rates of 390 consecutive plasma samples processed in the central service laboratory were compared with previously reported prevalence in an Asian population. Results.--Our results suggested that limit of detection for the EGFR quantitative polymerase chain reaction assay was 10 mutation copies, and the lowest detectable copy numbers could be extended to a single-digit level. The clinical sensitivity was 53.3% for all stages combined and 81.4% for late stages, with a high specificity of 100%. Clinical observations showed an overall positive finding rate of 32.5% and 41.4% for stage IV disease, which is consistent with previously reported EGFR mutation prevalence in an Asian population. Conclusions.--Our results supported the clinical utility of the ultrasensitive, quantitative polymerase chain reaction assay for EGFR mutation analysis with circulating tumor DNA.
      pubtype: Academic Journal
      doctype:
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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