Retrospective Study
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 26, 2020; 8(2): 264-275
Published online Jan 26, 2020. doi: 10.12998/wjcc.v8.i2.264
Malignant tumors associated with Peutz-Jeghers syndrome: Five cases from a single surgical unit
Zhi Zheng, Rui Xu, Jie Yin, Jun Cai, Guang-Yong Chen, Jun Zhang, Zhong-Tao Zhang
Zhi Zheng, Rui Xu, Jie Yin, Jun Cai, Guang-Yong Chen, Jun Zhang, Zhong-Tao Zhang, Department of General Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China
Author contributions: Zheng Z and Xu R contributed equally to this work; Zheng Z and Xu R carried out the studies, participated in collecting the data, and drafted the manuscript; Yin J and Cai J performed the statistical analysis and participated in its design; Zhang J, Chen GY, and Zhang ZT helped to draft the manuscript; all authors read and approved the final manuscript.
Supported by the Beijing Health System of High Level Health Technical Personal Training Project, No. 2013-3-067; and Beijing Municipal Science and Technology Commission, No. D171100006517003.
Institutional review board statement: This study was approved by the Ethics Committee of Beijing Friendship Hospital, Capital Medical University.
Informed consent statement: All participants provided written informed consent.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
Data sharing statement: The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.
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 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/
Corresponding author: Jun Zhang, MD, Professor, Department of General Surgery, Beijing Friendship Hospital, Capital Medical University, 95 Yongan Road, Xicheng District, Beijing 100050, China. zhangjun5986@ccmu.edu.cn
Received: November 11, 2019
Peer-review started: November 11, 2019
First decision: November 22, 2019
Revised: December 15, 2019
Accepted: January 1, 2020
Article in press: January 1, 2020
Published online: January 26, 2020
Abstract
BACKGROUND

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease easily causing secondary malignant changes without effective treatments.

AIM

To assess the clinical characteristics, diagnosis, and treatment of malignant changes secondary to PJS.

METHODS

The clinical data of five patients with malignant changes secondary to PJS diagnosed and treated at Beijing Friendship Hospital from June 2014 to January 2017 were retrospectively analyzed; the follow-up ended in May 2018.

RESULTS

There were three male and two female patients with an average age of 43.6 years. Intestinal obstruction, intussusception, and abdominal pain were the first symptoms. Computed tomography and gastrointestinal imaging combined with endoscopy helped evaluate the depth of tumor infiltration and determine the need for radical resection. Three patients underwent surgery. Postoperative pathology confirmed adenocarcinoma, genetic test indicated STK11 mutation, and the patients received chemotherapy, including one who succumbed to tumor progression 6 months post-surgery. Other two patients underwent endoscopic resection, and postoperative pathology confirmed high grade intraepithelial neoplasia. The surviving patients had no recurrence by May 2018.

CONCLUSION

Endoscopy combined with computed tomography and gastrointestinal imaging is of great significance in the diagnosis and treatment of PJS, and pathological examination and gene detection are the gold standards for detecting malignant changes secondary to PJS. Some malignant polyps can be removed under endoscopy, and surgery is feasible when malignant polyps cannot be removed under an endoscope. For patients unable to achieve R0 resection, clinical symptoms should be relieved, and postoperative adjuvant chemotherapy could improve long-term prognosis. Meanwhile, close and regular surveillance should be conducted to prevent severe complications.

Keywords: Peutz-Jeghers syndrome, Malignant, Diagnosis, Surgery, Treatment

Core tip: Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease easily causing secondary malignant changes without effective treatments. Pathological examination and gene detection are the gold standards for detecting malignant PJS polyps. Patients with PJS have higher malignant tumor susceptibility. Hence, we need to surveil regularly and take positive measures for removing Peutz-Jeghers polyps.