Copyright
©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 16, 2018; 6(8): 224-232
Published online Aug 16, 2018. doi: 10.12998/wjcc.v6.i8.224
Published online Aug 16, 2018. doi: 10.12998/wjcc.v6.i8.224
Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature
Fu-Xiao Duan, Guo-Li Gu, Hai-Rui Yang, Peng-Fei Yu, Zhi Zhang, Department of General Surgery, Air Force General Hospital of Chinese PLA, Beijing 100142, China
Author contributions: Gu GL designed the research; Duan FX, Gu GL, Yang HR and Yu PF prepared the samples for sequencing; Duan FX and Zhang Z conducted the sequencing; Gu GL and Duan FX collected and analyzed the data; Duan FX wrote the manuscript; Gu GL revised the manuscript.
Supported by Major Projects of Chinese PLA "13th Five-Year Plan" Logistics Research Subject , No. AKJ15J003 .
Informed consent statement: The study participant provided informed written consent prior to their treatments and study enrollment.
Conflict-of-interest statement: All authors declare no conflict of interest related to this study or its publication.
Open-Access: 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/
Correspondence to: Guo-Li Gu, MD, MSc, Associate Professor, Department of General Surgery, Air Force General Hospital of Chinese PLA, No. 30, Fucheng Road, Haidian District, Beijing 100142, China. kzggl@163.com
Telephone: +86-10-66928303 Fax: +86-10-66928303
Received: March 21, 2018
Peer-review started: March 21, 2018
First decision: April 18, 2018
Revised: April 23, 2018
Accepted: May 11, 2018
Article in press: May 13, 2018
Published online: August 16, 2018
Peer-review started: March 21, 2018
First decision: April 18, 2018
Revised: April 23, 2018
Accepted: May 11, 2018
Article in press: May 13, 2018
Published online: August 16, 2018
ARTICLE HIGHLIGHTS
Case characteristics
A 32-year-old male patient with Peutz-Jeghers syndrome (PJS).
Clinical diagnosis
Peutz-Jeghers syndrome.
Endoscopic diagnosis
Multiple long pedicle, subpedicle or sessile polyps sized 0.5-1.2 cm appeared in the colorectum, especially the descending colon, sigmoid colon and rectum.
Imaging diagnosis
Many polyps of different sizes were distributed in the descending duodenum and the 3rd to 6th segments of the small intestine, and the local intestinal canal was torsional.
Treatment
The patient underwent a combined laparoscopic and endoscopic surgery.
Pathological diagnosis
PJS hamartoma polyps without canceration.
High-throughput sequencing
Instead of LKB1/STK11 gene, we detected missense mutations of APC gene and MSH6 gene.
Experiences and lessons
This research may be helpful in expanding the mutation spectrum of PJS and revealing its genetic heterogeneity.