Retrospective Study
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Mar 14, 2023; 29(10): 1627-1637
Published online Mar 14, 2023. doi: 10.3748/wjg.v29.i10.1627
Clinical features, diagnosis, and treatment of Peutz-Jeghers syndrome: Experience with 566 Chinese cases
Zu-Xin Xu, Li-Xin Jiang, Yu-Rui Chen, Yu-Hui Zhang, Zhi Zhang, Peng-Fei Yu, Zhi-Wei Dong, Hai-Rui Yang, Guo-Li Gu
Zu-Xin Xu, Fifth Clinical College of Anhui Medical University, Air Force Clinical College of Anhui Medical University, Beijing 100142, China
Li-Xin Jiang, Yu-Rui Chen, Air Force Clinical College of China Medical University, Beijing 100142, China
Yu-Hui Zhang, Zhi Zhang, Peng-Fei Yu, Zhi-Wei Dong, Hai-Rui Yang, Guo-Li Gu, Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
Author contributions: Xu ZX, Jiang LX, and Chen YR contributed equally to this study; Gu GL designed the research; Xu ZX, Jiang LX, Chen YR, Zhang YH, Zhang Z, Yu PF, Dong ZW, and Yang HR collected and analyzed the clinical data; Xu ZX, Jiang LX, and Chen YR wrote the manuscript; Gu GL and Dong ZW revised the manuscript.
Supported by Beijing Capital Medical Development Research Fund, No. Shoufa2020-2-5122; Outstanding Young Talents Program of Air Force Medical Center, PLA, No. 22BJQN004; Clinical Program of Air Force Medical University, No. Xiaoke2022-07.
Institutional review board statement: The study was reviewed and approved by the Air Force Medical Center, PLA Institutional Review Board (No. 2020-105-PJ01).
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
Data sharing statement: No additional data are available.
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: Guo-Li Gu, FRCS (Gen Surg), Chief Doctor, Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, No. 30 Fucheng Road, Haidian District, Beijing 100142, China. kzggl@163.com
Received: December 12, 2022
Peer-review started: December 12, 2022
First decision: January 11, 2023
Revised: January 17, 2023
Accepted: February 16, 2023
Article in press: February 16, 2023
Published online: March 14, 2023
Processing time: 87 Days and 21.7 Hours
ARTICLE HIGHLIGHTS
Research background

Peutz-Jeghers syndrome (PJS) is a clinically rare autosomal dominant inherited disease with pigmented spots on the lips and mucous membranes and extremities, scattered gastrointestinal polyps, and susceptibility to tumors as clinical manifestations. Effective preventive and curative methods are still lacking.

Research motivation

Here we summarize out experience with 566 Chinese patients with PJS from a Chinese medical center our experience with 566 Chinese patients with PJS from a Chinese medical center with regard to the clinical features, diagnosis, and treatment, in order to promote the clinical understanding of PJS and improve its clinical diagnosis and treatment.

Research objectives

To explore the clinical features, diagnosis, and treatment of PJS in Chinese patients.

Research methods

The clinical data of 566 PJS cases admitted to the Air Force Medical Center from January 1994 to October 2022 was retrospectively analyzed, including age, gender, ethnicity, family history, first treatment age, time and sequence of appearance of mucocutaneous pigmentation, polyp distribution, polyp quantity and diameter, frequency of hospitalization, frequency of surgical operations, etc.

Research results

Of all the patients included, 55.3% were male and 44.7% were female. Median time to the appearance of mucocutaneous pigmentation was 2 years, and median time from the appearance of mucocutaneous pigmentation to the occurrence of abdominal symptoms was 10 years. The vast majority (92.2%) of patients underwent small bowel endoscopy and treatment, with 2.3% having serious complications. There was a statistically significant difference in the number of enteroscopies between patients with and without canceration (P = 0.004, Z = -2.882); 71.2% of patients underwent surgical operation, 75.6% of patients underwent surgical operation before the age of 35 years, and there was a statistically significant difference in the frequency of surgical operations between patients with and without cancer (P = 0.000, Z = -5.127). At 40 years of age, the cumulative risk of intussusception in PJS was approximately 72.0%, and at 50 years, the cumulative risk of intussusception in PJS was approximately 89.6%. At 50 years of age, the cumulative risk of cancer in PJS was approximately 49.3%, and at 60 years of age, the cumulative risk of cancer in PJS was approximately 71.7%.

Research conclusions

The risk of intussusception and cancer of PJS polyps increases with age. PJS patients ≥ 10 years old should undergo annual enteroscopy. Endoscopic treatment has a good safety profile and can reduce the occurrence of polyp intussusception and cancer. Surgery should be conducted to protect the gastrointestinal system by removing polyps.

Research perspectives

The clinical data of 566 PJS cases diagnosed and treated in a Chinese medical center were retrospectively analyzed, and the clinical characteristics and diagnosis and treatment process of Chinese PJS are summarized.