Rapid Disease Progression in a Patient with Advanced NSCLC Harboring a Germline Exon 14 Skipping Mutation: A Case Report.

exon 14 skipping variants have been identified as a novel type of oncogenic driver mutations in non-small-cell lung cancer (NSCLC), while the germline mutation, especially germline exon 14 skipping mutation rarely occurred in NSCLC. Herein, we present the first case of a 33-year-old NSCLC patient with a germline exon 14 skipping mutation, who also harbored a somatic exon 20 insertion. The patient was initially diagnosed with a stage IIB adenosquamous carcinoma. He underwent a thoracoscopic radical resection followed by four cycles of adjuvant chemotherapy but relapsed 2 months after completing the chemotherapy. Afatinib was then prescribed but disease progressed immediately. Subsequently, he received anlotinib but did not respond and died a month later with an overall survival of 9 months. Our case may provide an evidence for the pathogenicity of germline exon 14 skipping mutation in NSCLC and suggest it as an adverse prognostic factor.