Case Report
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
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
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
Processing time: 148 Days and 5 Hours
Core Tip

Core tip: The germline mutation of LKB1/STK11 gene on chromosome 19p13.3 is considered to be the hereditary cause of Peutz-Jeghers syndrome (PJS). We report a male PJS patient, who had typical manifestations and a definite family history, and but did not have LKB1/STK11 gene mutation. By means of high-throughput sequencing technology, only mutations in APC gene (c.6662T > C: p.Met2221Thr) and MSH6 gene (c.3488A > T: p.Glu1163Val) were detected in this case. This study suggests that some other genetic disorders may cause PJS besides LKB1/STK11 gene mutation.