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Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.
World J Gastrointest Oncol. Jul 15, 2026; 18(7): 117886
Published online Jul 15, 2026. doi: 10.4251/wjgo.v18.i7.117886
Duodenal signet-ring carcinoma arising in pyloric gland adenoma with RN7SL1/MUC6 upregulation and mitochondrial dysregulation: A case report
Wei-Qiang Wu, Zheng-Rong Mao, Jun Li, Jie-Ying Qiu, Xue Wen
Xue Wen, Department of Pathology, The First Affiliated Hospital, Medical College, Zhejiang University, Hangzhou 310003, Zhejiang Province, China
Jie-Ying Qiu, Zheng-Rong Mao, Department of Pathology and Patho-physiology Zhejiang University, School of Medicine, Zhejiang University, Hangzhou 310058, Zhejiang Province, China
Jun Li, Wei-Qiang Wu, Department of Pathology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, Zhejiang Province, China
Co-first authors: Xue Wen and Jie-Ying Qiu.
Co-corresponding authors: Zheng-Rong Mao and Wei-Qiang Wu.
Author contributions: Wen X and Qiu JY contributed equally to this article, they are the co-first authors of this manuscript; Wen X and Li J assisted in the literature search and wrote the paper; Qiu JY participated in the data acquisition and analysis; Mao ZR and Wu WQ designed and wrote the case report and performed the literature search, they contributed equally to this article, they are the co-corresponding authors of this manuscript; and all authors thoroughly reviewed and endorsed the final manuscript.
AI contribution statement: No artificial intelligence tools were used for language polishing, translation, and data analysis, but they are sometimes employed for assisting in the writing of the manuscripts. The entire or any part of the main body of this manuscript (including the abstract, introduction, materials and methods, results, discussion, and conclusion) was not generated by artificial intelligence.
Informed consent statement: Informed written consent was obtained from the patient for the publication of this report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: Wei-Qiang Wu, Professor, Department of Pathology, The First Affiliated Hospital, School of Medicine, Zhejiang University, No. 79 Qingchun Road, Hangzhou 310003, Zhejiang Province, China. wuweiqiang@zju.edu.cn
Received: December 18, 2025
Revised: February 4, 2026
Accepted: April 3, 2026
Published online: July 15, 2026
Processing time: 201 Days and 0.8 Hours
Abstract
BACKGROUND

Duodenal signet-ring cell carcinoma (SRCC) arising from a pyloric gland adenoma (PGA) is exceedingly rare, and its molecular pathogenesis remains poorly defined.

CASE SUMMARY

We present the case of a 61-year-old man who presented with gastrointestinal hemorrhage; endoscopy revealed a polypoid lesion on the anteroinferior wall of the descending duodenum. Histologic examination showed tightly packed pyloric gland-type tubules with focal transition to SRCC. Immunohistochemical analysis demonstrated diffuse mucin (MUC) 6 expression in the PGA component, while CDX2 and CK20 were negative. In contrast, the SRCC areas exhibited strong MUC5AC positivity, markedly increased proliferative activity, and strong nuclear p53 staining, features that provided clear distinguishment from the p53-negative conventional PGA regions. Next-generation sequencing identified pathogenic variants in RN7SL1 and MUC6, together with altered expression of somatic mitochondrial genes (MT-CO2, MT-CO1, MT-ND1, MT-ND4, and MT-CO3), which may collectively contribute to tumorigenesis.

CONCLUSION

This case broadens the molecular landscape of SRCC arising from PGA and underscores the diagnostic and pathogenetic value of next-generation sequencing in characterizing rare gastrointestinal neoplasms.

Keywords: Duodenal tumor; Pyloric gland-type adenoma; Signet-ring cell carcinoma; Immunohistochemistry; Next-generation sequencing; Case report

Core Tip: We report the first documented case of duodenal signet-ring cell carcinoma arising from a pyloric gland adenoma, characterized by distinctive molecular findings identified through next-generation sequencing. Our data highlight variants in RN7SL1 and MUC6, as well as altered expression of the somatic mitochondrial genes MT-CO2, MT-CO1, MT-ND1, MT-ND4 and MT-CO3, suggesting a novel pathogenic mechanism. This case underscores the value of next-generation sequencing in diagnosing rare gastrointestinal neoplasms and broadens our understanding of signet-ring cell carcinoma development.

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