Tian ZS, Ma XP, Ruan HX, Yang Y, Zhao YL. Rare large sigmoid hamartomatous polyp in an elderly patient with atypical Peutz-Jeghers syndrome: A case report. World J Gastrointest Surg 2025; 17(3): 102174 [DOI: 10.4240/wjgs.v17.i3.102174]
Corresponding Author of This Article
Ya-Lei Zhao, MD, Professor, Department of Anus and Intestine Surgery, The Second Hospital of Hebei Medical University, No. 215 Heping West Road, Shijiazhuang 050000, Hebei Province, China. doctor_zhaoyalei@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/
World J Gastrointest Surg. Mar 27, 2025; 17(3): 102174 Published online Mar 27, 2025. doi: 10.4240/wjgs.v17.i3.102174
Rare large sigmoid hamartomatous polyp in an elderly patient with atypical Peutz-Jeghers syndrome: A case report
Zhe-Sen Tian, Xiao-Peng Ma, Hong-Xun Ruan, Yang Yang, Ya-Lei Zhao
Zhe-Sen Tian, Department of Radiotherapy, The Second Hospital of Hebei Medical University, Shijiazhuang 050000, Hebei Province, China
Xiao-Peng Ma, Hong-Xun Ruan, Ya-Lei Zhao, Department of Anus and Intestine Surgery, The Second Hospital of Hebei Medical University, Shijiazhuang 050000, Hebei Province, China
Yang Yang, Department of Anus and Intestine Surgery, The Third Hospital of Hebei Medical University, Shijiazhuang 050051, Hebei Province, China
Co-first authors: Zhe-Sen Tian and Xiao-Peng Ma.
Author contributions: Zhao YL, Tian ZS and Ma XP designed and performed the research; Tian ZS and Ruan HX collected the clinical data; Ma XP and Yang Y wrote the manuscript; all authors finished the approval of the final version manuscript; The contributions of Tian ZS and Ma XP were equal and they were co-first authors.
Supported by Medical Science Research Program of Hebei Province, No. 20250060.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
Corresponding author: Ya-Lei Zhao, MD, Professor, Department of Anus and Intestine Surgery, The Second Hospital of Hebei Medical University, No. 215 Heping West Road, Shijiazhuang 050000, Hebei Province, China. doctor_zhaoyalei@163.com
Received: October 10, 2024 Revised: December 17, 2024 Accepted: January 9, 2025 Published online: March 27, 2025 Processing time: 136 Days and 11.8 Hours
Abstract
BACKGROUND
Peutz-Jeghers (PJ) syndrome (PJS) is a rare autosomal dominant genetic disease characterized by the association of intestinal polyposis, mucosal skin pigmentation, and cancer susceptibility. PJS patients have a significantly increased risk of malignant tumors in the gastrointestinal tract and extra-gastrointestinal tract, including various epithelial malignant tumors (colorectal cancer, gastric cancer, pancreatic cancer, breast cancer, and ovarian cancer, etc.). PJS is commonly seen in children and adolescents with multiple small intestinal polyps, often causing intussusception.
CASE SUMMARY
A 62-year-old male presented with intermittent left lower abdominal pain after drinking or consuming cold beverages that was accompanied by occasional hematochezia. Abdominal contrast-enhanced computed tomography indicated an isolated sigmoid colon grape-like lesion. Subsequently, the patient underwent laparoscopic surgery, and the pathological diagnosis was PJ hamartomatous polyp. PJS was not considered at the initial visit, as the patient was older, and the facial pigmentation was not obvious. However, significant pigmentation was observed in the perineum during digital rectal examination. Interestingly, we observed that the patient exhibited nodular shadows in the adrenal glands computed tomography images that may be related to pigmentation. Therefore, we performed the determination of adrenal cortical hormones, but the results were not abnormal. Combined with skin and mucosal pigmentation and laboratory examinations, the patient was diagnosed with PJS. After laparoscopic sigmoid colon resection, the patient's symptoms improved, and no discomfort symptoms were reported in the later follow-up.
CONCLUSION
The age of onset and lesion location of this case are different from those of typical or isolated PJS patients.
Core Tip: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant hereditary illness defined by the connection of intestinal polyposis, mucosal skin pigmentation, and cancer risk. Due to the older age, the clinical features of mucosal hyperpigmentation were atypia in this case study. Due to the location of the polyp in the sigmoid colon, the common intussusception symptoms of PJS cases in the past did not appear, and only hematochesis and abdominal pain related symptoms were observed. PJS mainly occurs in children and adolescents, often with multiple small intestinal polyps. Such an advanced age with a rare polyp location has not been reported.
