Zhao L, Wang Q, Zhao SD, Zhou J, Jiang KW, Ye YJ, Wang S, Shen ZL. Genetic mutations associated with sensitivity to neoadjuvant chemotherapy in metastatic colon cancer: A case report and review of literature. World J Clin Cases 2021; 9(24): 7099-7109 [PMID: 34540965 DOI: 10.12998/wjcc.v9.i24.7099]
Corresponding Author of This Article
Zhan-Long Shen, MD, PhD, Surgeon, Department of Gastroenterological Surgery, Laboratory of Surgical Oncology, Beijing Key Laboratory of Colorectal Cancer Diagnosis and Treatment Research, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, China. shenzhanlong@pkuph.edu.cn
Research Domain of This Article
Gastroenterology & Hepatology
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/
World J Clin Cases. Aug 26, 2021; 9(24): 7099-7109 Published online Aug 26, 2021. doi: 10.12998/wjcc.v9.i24.7099
Genetic mutations associated with sensitivity to neoadjuvant chemotherapy in metastatic colon cancer: A case report and review of literature
Long Zhao, Quan Wang, Shi-Dong Zhao, Jing Zhou, Ke-Wei Jiang, Ying-Jiang Ye, Shan Wang, Zhan-Long Shen
Long Zhao, Quan Wang, Shi-Dong Zhao, Jing Zhou, Ke-Wei Jiang, Ying-Jiang Ye, Shan Wang, Zhan-Long Shen, Department of Gastroenterological Surgery, Laboratory of Surgical Oncology, Beijing Key Laboratory of Colorectal Cancer Diagnosis and Treatment Research, Peking University People's Hospital, Beijing 100044, China
Author contributions: Zhao L and Wang Q, Wang S and Shen ZL reviewed the literature and contributed to manuscript drafting; Zhao L, Wang Q, Zhao SD and Zhou J performed the meta analyses and interpretation and contributed to manuscript drafting; Jiang KW and Ye YJ analyzed and interpreted the imaging findings; Jiang KW, Ye YJ, Wang S and Shen ZL were responsible for the revision of the manuscript for important intellectual content; all authors issued final approval for the version to be submitted.
Supported byNational Natural Science Foundation of China, No. 81972240.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016) statement and the manuscript was prepared and revised according to CARE Checklist (2016) statement.
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: Zhan-Long Shen, MD, PhD, Surgeon, Department of Gastroenterological Surgery, Laboratory of Surgical Oncology, Beijing Key Laboratory of Colorectal Cancer Diagnosis and Treatment Research, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, China. shenzhanlong@pkuph.edu.cn
Received: December 18, 2020 Peer-review started: December 18, 2020 First decision: March 27, 2021 Revised: May 14, 2021 Accepted: July 12, 2021 Article in press: July 12, 2021 Published online: August 26, 2021 Processing time: 240 Days and 21.7 Hours
Abstract
BACKGROUND
Colorectal liver metastases (CLM) occur in 15%-30% of patients with colorectal cancer (CRC). Advancements in next generation sequencing (NGS) can provide more precise prognoses for cancer patients and help guide clinical treatment. However, the genetic variants that predict high sensitivity to neoadjuvant chemotherapy remain unclear, especially in patients with CLM. The aim of this study was to identify the relevant genetic variants in a single CLM patient and to summarize the current evidence on mutations and single nucleotide polymorphisms (SNPs) that objectively predict sensitivity to neoadjuvant chemotherapy.
CASE SUMMARY
A 76-year-old male patient, who was diagnosed as stage IV colon cancer with liver metastases, was found to have APC/TP53/KRAS mutations. He showed a good therapeutic response to 12 courses of oxaliplatin regimens combined with Bevacizumab. Genetic analysis of the patient identified 5 genes with 7 detected SNPs that may be related to a better response to chemotherapy drugs. In addition, a critical literature review was performed based on a standardized appraisal form after selecting the articles. Ultimately, 21 eligible studies were appraised to assess the association between gene mutations and good prognosis. Mutations in KRAS, TP53, SMAD4, and APC were identified as being associated with a poor response to chemotherapy drugs, whereas mutations of CREBBP and POLD1 were associated with longer overall survival.
CONCLUSION
NGS can identify precise predictors of response to neoadjuvant chemotherapy, leading to improved outcomes for CRC patients.
Core Tip: Colorectal cancer has high incidence and mortality rates, with liver metastases as the main cause of death. Although chemotherapy is an effective treatment, some patients with specific gene mutations are not sensitive to chemotherapy. With advancements in next generation sequencing, we detected multiple somatic mutations in one patient with colorectal cancer who was sensitive to chemotherapy. Based on the genetic mutation of this patient, we conducted a literature review, which identified KRAS, TP53, SMAD4, and APC as being associated with a poor response to chemotherapy, whereas mutations of CREBBP and POLD1 were associated with longer overall survival.
