Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Surg. Mar 27, 2023; 15(3): 480-487
Published online Mar 27, 2023. doi: 10.4240/wjgs.v15.i3.480
Immunotherapy in combination with chemotherapy for Peutz-Jeghers syndrome with advanced cervical cancer: A case report
Xiang-Cheng Hu, Chen-Xiao Gan, Hui-Min Zheng, Xue-Ping Wu, Wen-Sheng Pan
Xiang-Cheng Hu, Hui-Min Zheng, Department of Gastroenterology, Bengbu Medical College, Bengbu 233000, Anhui Province, China
Chen-Xiao Gan, Xue-Ping Wu, Wen-Sheng Pan, Department of Gastroenterology, Zhejiang Provincial People’s hospital, Hangzhou 310014, Zhejiang Province, China
Author contributions: Hu XC and Gan CX assembled, analysed, and interpreted the patient’s data and case presentation; Zheng HM and Wu XP prepared the original manuscript; Pan WS edited and critically revised the manuscript; All authors contributed to writing the manuscript; All authors read and approved the final manuscript.
Informed consent statement: All study participants or their legal guardian provided informed written consent about personal and medical data collection prior to study enrolment.
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: Wen-Sheng Pan, MD, Doctor, Department of Gastroenterology, Zhejiang Provincial People’s Hospital, No. 158 Shangtang Road, Gongshu District, Hangzhou 310014, Zhejiang Province, China. wspan223@163.com
Received: November 22, 2022
Peer-review started: November 22, 2022
First decision: January 11, 2023
Revised: January 31, 2023
Accepted: March 3, 2023
Article in press: March 3, 2023
Published online: March 27, 2023
Processing time: 125 Days and 1.1 Hours
Abstract
BACKGROUND

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder, and female patients may develop gynecologic tumours. The prognosis for such patients is poor and the specific pathogenesis remains uncertain. Therefore, there are currently no uniform treatment options.

CASE SUMMARY

Herein, we introduce the case of a 45-year-old female who was diagnosed with PJS for 45 years and cervical cancer for 3 years. Postoperative pathological examination showed metastases in the right external iliac lymph nodes. The patient was initially treated with a combination of doxorubicin and carboplatin chemotherapy and pelvic magnetic resonance showed that the metastases had grown. Subsequently, we performed whole exome sequencing in this patient and identified the relevant causative gene. In addition to the chemotherapy regimen, sindilizumab was administered and the patient was followed up. After 4 cycles of treatment, the metastases were substantially reduced and were not enlarged after six months of follow-up. This case report suggests that patients with PJS combined with cervical cancer may have a sustained response to immune-combination chemotherapy regimens.

CONCLUSION

Clinicians should be aware of the importance of immunotherapy in patients with PJS combined with advanced cervical cancer.

Keywords: Peutz-Jeghers syndrome; Cervical cancer; Programmed cell death protein 1; Chemotherapy; Case report

Core Tip: Peutz-Jeghers syndrome (PJS) is a rare genetic disease with cancerous potential. In this case, the patient was diagnosed with PJS combined with progressive cervical cancer and she initially received doxorubicin and carboplatin; however, the right parietal iliac vessel metastases did not shrink. This case suggests that the use of programmed cell death protein 1 (PD-1) inhibitors was helpful in this patient and that PD-1 inhibitors combined with chemotherapy may be a good choice for treating this disease.