Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 26, 2021; 9(12): 2884-2889
Published online Apr 26, 2021. doi: 10.12998/wjcc.v9.i12.2884
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
Boyeon Kim, Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul 03722, South Korea
Boyeon Kim, Yoonjung Kim, Kyung-A Lee, Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, South Korea
Inho Park, Center for Precision Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, South Korea
Jae Yong Cho, Division of Medical Oncology, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, South Korea
Author contributions: Kim B reviewed the literature and contributed to manuscript drafting; Cho JY provided clinical information regarding the patient; Kim Y and Park I contributed to panel assay design and gene curation; Kim B, Kim Y, and Lee KA performed analysis of genetic data; Lee KA and Cho JY were responsible for revision of the manuscript for important intellectual content; All authors issued final approval for the version to be submitted.
Informed consent statement: Informed written consent was obtained for specimen collection and genetic analysis.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Kyung-A Lee, MD, PhD, Full Professor, Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-Ro, Gangnam-Gu, Seoul 06273, South Korea. kal1119@yuhs.ac
Received: December 4, 2020
Peer-review started: December 4, 2020
First decision: January 24, 2021
Revised: February 2, 2021
Accepted: March 3, 2021
Article in press: March 3, 2021
Published online: April 26, 2021
Processing time: 132 Days and 1.1 Hours
Abstract
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 next-generation 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 protooncogenic. Although the patient refused to continue therapy, we suggest that 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.

Keywords: Gene fusion; Cell-free DNA; Liquid biopsy; Gastric cancer; EGFR tyrosine kinase inhibitor; Case report

Core Tip: In recent decades, increasing application of next-generation sequencing has enabled detection of molecular aberrations, including fusions. In cases where tissue is not easily obtainable, cell-free DNA is used for detecting mutations to determine the molecular profile of cancer. In this study, we report the first case of EGFR-SEPT14 fusion detected from next-generation sequencing analysis of cell-free DNA from a patient with advanced gastric cancer. We suggest expanded applications of the cell-free DNA assay regardless of cancer type, which may open a new horizon in treatment of patients with advanced gastric cancer.