Case Report
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Oncol. Jun 15, 2025; 17(6): 106316
Published online Jun 15, 2025. doi: 10.4251/wjgo.v17.i6.106316
Molecular surveillance-informed personalized multidisciplinary therapy achieves prolonged survival in a patient with Lynch syndrome-associated colorectal cancer: A case report
Xin-Xin Xu, Yun-He Gao, Cheng-Zhou Du, Xiao-Xin Gao, Peng Chen, Rui-Fang Fan, Hong-Tao Li, Zhi Qiao
Xin-Xin Xu, Yun-He Gao, Zhi Qiao, Department of General Surgery & Institute of General Surgery, The First Medical Center, Chinese PLA General Hospital, Beijing 100853, China
Xin-Xin Xu, Cheng-Zhou Du, Xiao-Xin Gao, Peng Chen, Rui-Fang Fan, Hong-Tao Li, Department of General Surgery, The 940th Hospital of Joint Logistics Support Force of Chinese PLA, Lanzhou 730050, Gansu Province, China
Co-first authors: Xin-Xin Xu and Yun-He Gao.
Co-corresponding authors: Hong-Tao Li and Zhi Qiao.
Author contributions: Xu XX, Gao YH, Li HT, and Qiao Z made substantial contributions to the conception and design of the study; Xu XX, Gao YH, and Du CZ were primarily responsible for writing the manuscript; Du CZ, Gao XX, Chen P, and Fan RF were responsible for collecting the patient’s clinical data and data analysis; Xu XX, Gao YH, and Du CZ were responsible for patient management, data collection, and clinical analysis; Gao XX contributed to imaging evaluation; Chen P conducted statistical analysis and interpretation; Fan RF provided critical clinical insights and validation; Li HT and Qiao Z confirmed the authenticity of all the raw data. All authors have read and approved the final manuscript. Xu XX and Gao YH made equal contributions to the work as the co-first authors; Li HT and Qiao Z made equal contributions to the work as the co-corresponding authors.
Supported by the National Natural Science Foundation of China, No. 81972790; and the Natural Science Foundation of Gansu Province, China, No. 22JR5RA004.
Informed consent statement: Written informed consent was obtained from the patient for the publication of his anonymized case details and images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: Zhi Qiao, Professor, Department of General Surgery & Institute of General Surgery, The First Medical Center, Chinese PLA General Hospital, No. 28 Fuxing Road, Haidian District, Beijing 100853, China. drqiaozhi@126.com
Received: February 24, 2025
Revised: March 27, 2025
Accepted: April 22, 2025
Published online: June 15, 2025
Processing time: 112 Days and 0.6 Hours
Abstract
BACKGROUND

Lynch syndrome (LS), an autosomal dominant genetic disorder, is distinguished by germline mutations in the DNA mismatch repair genes, including MLH1. These mutations confer an elevated risk for the development of colorectal cancer (CRC) and an array of other malignancies. Timely detection, facilitated by genetic profiling and stringent molecular surveillance, is crucial. It enables the implementation of customized therapeutic strategies, which have the potential to markedly enhance patient outcomes. Despite its significant public health impact, LS is frequently underdiagnosed, underscoring the necessity for increased vigilance and the adoption of precision medicine tactics.

CASE SUMMARY

This case presentation focuses on a 54-year-old male patient with a strong familial predisposition to colon cancer, who was identified to have LS-associated multiple colorectal neoplasms. Utilizing a comprehensive, multidisciplinary therapeutic strategy that encompassed precision medicine, immunotherapy with pembrolizumab, and stringent molecular residual disease monitoring, we effectively managed his advanced CRC. This tailored approach led to the achievement of sustained clinical remission exceeding 30 months, illustrating the promise of personalized treatment protocols in optimizing outcomes for individuals with LS and associated colorectal malignancies.

CONCLUSION

A synergistic, multidisciplinary approach is essential for managing LS-associated CRC, advocating for personalized care pathways in precision medicine.

Keywords: Lynch syndrome; Colorectal cancer; Precision medicine; Multidisciplinary treatment; Case report

Core Tip: This case report spotlights the critical value of a personalized, multidisciplinary approach in managing Lynch syndrome-associated colorectal cancer. It underscores how precision medicine, particularly immunotherapy with programmed death protein 1 inhibitors, and rigorous molecular surveillance can lead to markedly improved patient outcomes, including sustained clinical remission for over 30 months. The integration of these strategies sets a new precedent for treating this complex genetic disorder.