Detection of EGFR-SEPT14 fusion in cell-free DNA of a patient with advanced gastric cancer: A case report

Boyeon Kim, Yoonjung Kim, Inho Park, Jae Yong Cho, Kyung A. Lee

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3 Citations (Scopus)


BACKGROUND Gastric cancer is the fifth most diagnosed cancer worldwide and the third most common cause of cancer-related death. In recent decades, increasing application of next-generation sequencing has enabled detection of molecular aberrations, including fusions. In cases where tissue is difficult to obtain, cell-free DNA (cfDNA) is used for detecting mutations to identify the molecular profile of cancer. Here, we report a rare case of EGFR-SEPT14 fusion detected from cfDNA analysis in a patient with gastric cancer. CASE SUMMARY A 49-year-old female diagnosed with advanced gastric cancer in July 2019 received capecitabine and then combination chemotherapy of ramucirumab and paclitaxel, but ascites was detected. The therapy was switched to nivolumab, but disease progression was observed on a positron emission tomography/computed tomography scan in May 2020. Therapy was discontinued, and cfDNA nextgeneration sequencing was immediately evaluated. All genomic variants, including fusions, were analyzed from cfDNA. The following somatic alterations were detected from the patient’s cfDNA: an APC frameshift mutation (NM_000038.5:c.6579del, p.V2194fs) with variant allele frequency of 0.5%, an EGFR amplification with a copy number of 17.3, and an EGFR-SEPT14 fusion with variant allele frequency of 45.3%. The site of the fusion was exon 24 of EGFR fused to exon 10 of SEPT14. The fusion was in-frame and considered to be proto EGFR-targeted therapies be tried in such future cases. CONCLUSION The expanded applications of the cfDNA assay may open a new horizon in treatment of patients with advanced gastric cancer.

Original languageEnglish
Pages (from-to)2884-2889
Number of pages6
JournalWorld Journal of Clinical Cases
Issue number12
Publication statusPublished - 2021 Apr 26

Bibliographical note

Publisher Copyright:
© The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.

All Science Journal Classification (ASJC) codes

  • General Medicine


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