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Vol.60 No.5 contents

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- Case Report -

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

Shun Endo¹, Takahiro Mitsumura¹, Masahiro Ishizuka¹, Takayuki Honda¹, Rie Sakakibara¹, Sadakatsu Ikeda², Yasunari Miyazaki^1
1Department of Respiratory Medicine, ²Department of Precision Cancer Medicine, Center for Innovative Cancer Treatment, Tokyo Medical and Dental University, Japan

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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.
key words: EGFR mutation-positive non-small-cell lung cancer, EGFR uncommon mutation, Tumor profiling test, PNA LNA PCR-Clamp method, Afatinib

Received: May 22, 2020
Accepted: July 20, 2020

JJLC 60 (5): 429-433, 2020