Lv K, Dong LZ, Yang H, Liu YL, Li H, Jia KL, Zhao XH, Chen JB. Perianal Paget’s disease with concomitant rectal cancer: A case report. World J Gastrointest Surg 2026; 18(9): 122446 [DOI: 10.4240/wjgs.122446]
Corresponding Author of This Article
Jing-Bo Chen, PhD, Director, Full Professor, Department of General Surgery, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, No. 16766 Jingshi Road, Jinan 250014, Shandong Province, China. qychenjingbo@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/
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Share the Article
Lv K, Dong LZ, Yang H, Liu YL, Li H, Jia KL, Zhao XH, Chen JB. Perianal Paget’s disease with concomitant rectal cancer: A case report. World J Gastrointest Surg 2026; 18(9): 122446 [DOI: 10.4240/wjgs.122446]
World J Gastrointest Surg. Sep 27, 2026; 18(9): 122446 Published online Sep 27, 2026. doi: 10.4240/wjgs.122446
Perianal Paget’s disease with concomitant rectal cancer: A case report
Kai Lv, Long-Zhan Dong, Hui Yang, Yu-Lin Liu, Han Li, Ke-Liang Jia, Xian-Hai Zhao, Jing-Bo Chen
Kai Lv, Long-Zhan Dong, Hui Yang, Yu-Lin Liu, Han Li, Jing-Bo Chen, Department of General Surgery, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan 250014, Shandong Province, China
Ke-Liang Jia, Xian-Hai Zhao, Department of Anorectal and Intestinal Surgery, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan 250014, Shandong Province, China
Co-first authors: Kai Lv and Long-Zhan Dong.
Author contributions: Lv K and Dong LZ contributed equally to this work and wrote the manuscript; Yang H, Liu YL and Li H collected the clinical data and prepared the figures; Jia KL and Zhao XH performed the clinical management and follow-up; Chen JB designed the study, supervised the revision and critically revised the manuscript. All authors have read and approved the final manuscript.
AI contribution statement: AI tools were used only for language refinement. No AI tool was involved in generating clinical data, interpreting results, or formulating scientific conclusions. All AI-generated outputs were reviewed and revised by the authors, who take full responsibility for the accuracy, originality and integrity of the manuscript.
Informed consent statement: Written informed consent was obtained from the patient for treatment and for publication of this case report and any accompanying anonymized clinical images.
Conflict-of-interest statement: The Authors declare that they have no conflict of interest.
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).
Corresponding author: Jing-Bo Chen, PhD, Director, Full Professor, Department of General Surgery, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, No. 16766 Jingshi Road, Jinan 250014, Shandong Province, China. qychenjingbo@163.com
Received: April 22, 2026 Revised: May 29, 2026 Accepted: July 9, 2026 Published online: September 27, 2026 Processing time: 147 Days and 7.3 Hours
Abstract
BACKGROUND
Perianal Paget’s disease (PPD) is a rare condition with a predisposition to anal and colorectal malignancies. Due to its subtle location and the nonspecific nature of its symptoms, PPD is often misdiagnosed or diagnosed late.
CASE SUMMARY
We present the case of a 75-year-old male patient who sought medical attention for “anal pain for more than 4 years”. Clinical examination revealed perianal skin thickening with ulceration, and biopsy pathology showed adenocarcinoma with Paget’s disease. The patient underwent radical surgical treatment, and postoperative pathology confirmed PPD with concomitant rectal cancer. Postoperative pathology showed an infiltrative ulcerative tubular adenocarcinoma with Paget’s disease involving the rectum, anal canal and perianal skin. The lesion measured 7.0 cm × 4.8 cm with a maximum thickness of 0.9 cm. Immunohistochemistry showed mismatch repair protein retention and BRAF negativity, and molecular testing showed no typical KRAS, NRAS, BRAF or PIK3CA mutation. Furthermore, we employed high-throughput sequencing on both the surgical and blood specimens to investigate genetic mutations in the cancer tissue and differential gene expression between cancerous and normal tissues, aiming to explore the molecular mechanisms underlying the disease's development and progression.
CONCLUSION
Persistent perianal ulceration requires biopsy and anorectal evaluation to exclude PPD with concomitant malignancy.
Core Tip: Perianal Paget’s disease is rare and may mimic benign perianal disorders, resulting in delayed diagnosis. This case highlights the need for biopsy of persistent perianal ulceration and complete anorectal evaluation. The resected specimen confirmed rectal adenocarcinoma with Paget’s disease. Immunohistochemistry showed retained mismatch repair proteins and negative BRAF expression, and molecular testing revealed no typical KRAS, NRAS, BRAF, or PIK3CA mutations.
