| ISSN |
1007-9327 (print) and 2219-2840 (online) |
| 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/ |
| Copyright |
©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved. |
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Genetics & Heredity |
| Manuscript Type |
Clinical Trials Study |
| Article Title |
Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Li-Xin Jiang, Yu-Rui Chen, Zu-Xin Xu, Yu-Hui Zhang, Zhi Zhang, Peng-Fei Yu, Zhi-Wei Dong, Hai-Rui Yang and Guo-Li Gu |
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Beijing Capital Medical Development Research Fund |
Shoufa2020-2-5122 |
| Outstanding Young Talents Program of Air Force Medical Center, PLA |
22BJQN004 |
| Clinical Program of Air Force Medical University |
Xiaoke2022-07 |
|
| Corresponding Author |
Guo-Li Gu, MM, Chief Doctor, Director, Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Fifth Clinical (Air Force Clinical College) of China Medical University, No. 30 Fucheng Road, Haidian District, Beijing 100142, China. kzggl@163.com |
| Key Words |
Peutz-Jeghers syndrome; STK11; Mutant type; Wild type |
| Core Tip |
Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease with skin mucosal pigment spots and gastrointestinal (GI) multiple hamartoma polyps as clinical characteristics. At present, it is considered that the germline mutation of STK11 gene is the genetic cause of PJS. However, not all PJS patients can be detected STK11 germline mutations. The specific clinical characteristics of these PJS patients without STK11 mutation is an interesting clinical question. Or, like wild type GI stromal tumor, whether these PJS without STK11 mutation are also called PJS is worth discussing. Therefore, we designed the study to understand the clinical characteristics of these PJS patients without STK11 mutation. Final results found that PJS patients without STK11 mutations might have less severe clinical-pathologic manifestations than those with. |
| Publish Date |
2023-06-01 13:04 |
| Citation |
Jiang LX, Chen YR, Xu ZX, Zhang YH, Zhang Z, Yu PF, Dong ZW, Yang HR, Gu GL. Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients. World J Gastroenterol 2023; 29(21): 3302-3317 |
| URL |
https://www.wjgnet.com/1007-9327/full/v29/i21/3302.htm |
| DOI |
https://dx.doi.org/10.3748/wjg.v29.i21.3302 |
