Qu YJ, Zhang QS, Wang B, Zhang F, Pan E, Zhao CY, Liu SY, Fang LP. Comprehensive next-generation sequencing reveals double primary colorectal carcinoma missed by diagnostic imaging: A case report. World J Gastrointest Oncol 2023; 15(10): 1823-1828 [PMID: 37969415 DOI: 10.4251/wjgo.v15.i10.1823]
Corresponding Author of This Article
Li-Ping Fang, MD, Professor, Department of Medical Oncology, The Second Hospital of Dalian Medical University, No. 467 Zhongshan Road, Shahekou District, Dalian 116023, Liaoning Province, China. fangliping10000@dmu.edu.cn
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
Yan-Jun Qu, Li-Ping Fang, Department of Medical Oncology, The Second Hospital of Dalian Medical University, Dalian 116023, Liaoning Province, China
Qian-Shi Zhang, Bo Wang, Feng Zhang, Department of Gastrointestinal Surgery, The Second Hospital of Dalian Medical University, Dalian 116023, Liaoning Province, China
Evenki Pan, Chun-Yan Zhao, Si-Ye Liu, Department of Medical, Nanjing Geneseeq Technology Inc., Nanjing 211500, Jiangsu Province, China
Author contributions: Qu YJ, Zhang QS, Wang B and Zhang F contributed equally to this work; All authors contributed to data analysis and drafting or revising the manuscript; All authors agreed on the journal to which the article is submitted, provided final approval of the version to be published, and agreed to be accountable for all aspects of the study.
Informed consent statement: This research was approved by the Ethics Committee of The Second Hospital of Dalian Medical University. Written informed consent to publish the clinical details and images were obtained from the patient.
Conflict-of-interest statement: Authors Evenki Pan and Chunyan Zhao are employed by Nanjing Geneseeq Technology Inc. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential 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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Li-Ping Fang, MD, Professor, Department of Medical Oncology, The Second Hospital of Dalian Medical University, No. 467 Zhongshan Road, Shahekou District, Dalian 116023, Liaoning Province, China. fangliping10000@dmu.edu.cn
Received: June 5, 2023 Peer-review started: June 5, 2023 First decision: July 8, 2023 Revised: July 14, 2023 Accepted: August 28, 2023 Article in press: August 28, 2023 Published online: October 15, 2023 Processing time: 125 Days and 1.5 Hours
Abstract
BACKGROUND
Multiple primary colorectal carcinoma (MPCC) is a rare clinical disease, which is challenging to differentiate from metastatic disease using histopathological methods. Next-generation sequencing (NGS) has been employed to identify multiple primary cancers.
CASE SUMMARY
This study a rare case of a 63-year-old male patient diagnosed with MPCC by targeted NGS, which was initially missed by radiological evaluation. The patient was found to have two tumors located on the surface of the colorectum which had distinct genomic alterations. Based on wild-type KRAS detected in the unresected tumor, the patient benefited from the epidermal growth factor receptor (EGFR) inhibitor cetuximab treatment, but developed novel mutations including KIF5B-RET fusion, which provides a possible resistance mechanism to anti-EGFR therapy.
CONCLUSION
Our case highlights the necessity of using genetic testing for primary tumor diagnosis and the application of serial plasma circulating tumor DNA profiling for dynamic disease monitoring.
Core Tip: We report a rare case of a 63-year-old male patient diagnosed with multiple primary colorectal carcinomas through targeted next-generation sequencing, which was initially missed by diagnostic imaging. The patient was found to have two tumors located on the colorectal surface which had different genomic alterations, as evidenced by immunohistochemistry staining. The patient benefited from treatment with the epidermal growth factor receptor inhibitor cetuximab due to the wild-type KRAS detected in the unresected tumor. This case emphasizes the importance of genetic testing for primary tumor diagnosis and the need for longitudinal circulating tumor DNA profiling to develop effective therapeutic strategies.
