A Case Report of a Non-small-cell Lung Cancer Patient Who Was EGFR-negative on a Conventional Test but Was Discovered to Have an <i>EGFR</i> Uncommon Mutation on Comprehensive Genomic Profiling and Responded to Afatinib

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  • Endo Shun
    Department of Respiratory Medicine, Tokyo Medical and Dental University
  • Mitsumura Takahiro
    Department of Respiratory Medicine, Tokyo Medical and Dental University
  • Ishizuka Masahiro
    Department of Respiratory Medicine, Tokyo Medical and Dental University
  • Honda Takayuki
    Department of Respiratory Medicine, Tokyo Medical and Dental University
  • Sakakibara Rie
    Department of Respiratory Medicine, Tokyo Medical and Dental University
  • Ikeda Sadakatsu
    Department of Precision Cancer Medicine, Center for Innovative Cancer Treatment, Tokyo Medical and Dental University
  • Miyazaki Yasunari
    Department of Respiratory Medicine, Tokyo Medical and Dental University

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Other Title
  • 当初EGFR遺伝子変異陰性であったが，遺伝子パネル検査でuncommon mutationが検出されアファチニブが奏効した非小細胞肺癌の1例
  • A Case Report of a Non-small-cell Lung Cancer Patient Who Was EGFR-negative on a Conventional Test but Was Discovered to Have an EGFR Uncommon Mutation on Comprehensive Genomic Profiling and Responded to Afatinib

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Description

<p>Background. The increasing availability of tumor profiling tests using next generation sequencing (NGS) may improve access to precision cancer medicine. We herein report a case of non-small-cell lung cancer (NSCLC) with EGFR uncommon mutations. The mutations were not detected by the initial PNA LNA PCR-Clamp method but were able to be detected by NGS-based tumor profiling tests using either tumor tissue or blood. Case. A 70-year-old woman with pathologic Stage IIIA lung adenocarcinoma had recurrence 1 year after left upper lobectomy. Sequencing of surgical specimens using the PNA LNA PCR-Clamp method showed the EGFR gene to be wild type. A total of 11 types of conventional chemotherapies and immunotherapies were administered during the next 7 years, but all eventually failed. To identify potentially actionable genetic mutations, NGS-based tumor profiling using both blood and surgical specimens was performed. EGFR G719D and E709A were detected, and the mutations were confirmed by re-sequencing using an updated version of the PNA LNA PCR-Clamp method. Afatinib treatment led to tumor regression. Conclusion. The availability of targeted EGFR mutation tests has expanded. This case suggests the possibility of missed opportunity on appropriate screening such as EGFR uncommon mutations.</p>

Journal

  • Haigan

    Haigan 60 (5), 429-433, 2020-10-20

    The Japan Lung Cancer Society

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