Duan FX, Gu GL, Yang HR, Yu PF, Zhang Z. Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature. World J Clin Cases 2018; 6(8): 224-232 [PMID: 30148152 DOI: 10.12998/wjcc.v6.i8.224]
Corresponding Author of This Article
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
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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/
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 byMajor 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
Abstract
Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease, which is characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartoma polyps. The germline mutation of LKB1/STK11 gene on chromosome 19p13.3 is considered to be the hereditary cause of PJS. However, must a patient with PJS have the LKB1/STK11 gene mutation? We here report a case of a male patient who had typical manifestations of PJS and a definite family history, 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. The missense mutations in APC and MSH6 gene may lead to abnormalities in structure and function of their expression products, and may result in the occurrence of PJS. This study suggests that some other genetic disorders may cause PJS besides LKB1/STK11 gene mutation.
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.
