Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 6, 2019; 7(13): 1703-1710
Published online Jul 6, 2019. doi: 10.12998/wjcc.v7.i13.1703
Synchronous multiple primary gastrointestinal cancers with CDH1 mutations: A case report
Mu-Ni Hu, Wei Lv, Rui-Yue Hu, Yi-Fan Si, Xiao-Wen Lu, Yan-Juan Deng, Huan Deng
Mu-Ni Hu, Wei Lv, Medical College, Nanchang University, Nanchang 330006, Jiangxi Province, China
Rui-Yue Hu, Department of Pharmacology, Jiangxi Provincial People’s Hospital, Nanchang 330006, Jiangxi Province, China
Yi-Fan Si, Department of Gastroenterology, the Fourth Affiliated Hospital of Nanchang University, Nanchang 330003, Jiangxi Province, China
Xiao-Wen Lu, Department of Radiology, the Fourth Affiliated Hospital of Nanchang University, Nanchang 330003, Jiangxi Province, China
Yan-Juan Deng, Huan Deng, Department of Pathology, the Fourth Affiliated Hospital of Nanchang University, Nanchang 330003, Jiangxi Province, China
Huan Deng, Molecular Medicine and Genetics Center, the Fourth Affiliated Hospital of Nanchang University, Nanchang 330003, Jiangxi Province, China
Huan Deng, Renmin Institute of Forensic Medicine in Jiangxi, Nanchang 330006, Jiangxi Province, China
Author contributions: Hu MN reviewed the literature and contributed to the principal manuscript drafting; Lv W and Hu RY reviewed the literature and contributed to manuscript drafting; Hu MN and Deng YJ performed the microbiological analyses and interpretation and contributed to manuscript drafting; Si YF analyzed and interpreted the endoscopic findings, reviewed the literature, and gave some clinical advice; Lu XW analyzed and interpreted the imagine findings; Deng H was responsible for the revision of the manuscript for important intellectual content; all authors issued final approval for the version to be submitted.
Supported by the National Science Foundation of China, Nos. 81770624 and 81860490; Foundation of Jiangxi Educational Committee, No. GJJ160048; and Foundation of Health and Family Planning Commission of Jiangxi Province, No. 20171098.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying 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 (2013), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
Corresponding author: Huan Deng, MD, PhD, Associate Professor, Department of Pathology, the Fourth Affiliated Hospital of Nanchang University, 133 South Guangchang Road, Nanchang 330003, Jiangxi Province, China. beandeng@ncu.edu.cn
Telephone: +86-791-87022537 Fax: +86-791-87022537
Received: February 3, 2019
Peer-review started: February 11, 2019
First decision: April 18, 2019
Revised: April 22, 2019
Accepted: May 3, 2019
Article in press: May 3, 2019
Published online: July 6, 2019
Processing time: 154 Days and 1.8 Hours
Abstract
BACKGROUND

Synchronous multiple primary cancers (SMPC) mean two or more malignant tumors occurring simultaneously and with different origins no matter what types they are or where they are located. The carcinogenesis of SMPC often involves variations of some specific genes. However, the correlation between CDH1 mutations and synchronous multiple primary gastrointestinal cancers is largely unknown.

CASE SUMMARY

A 62-year-old woman had sustained abdominal pain for one week and visited our hospital. Gastrointestinal endoscopy revealed multiple small polypoid lesions in both the stomach and colorectum. Computed tomography and laboratory results were within normal limits. Pathological evaluation confirmed signet ring cell carcinoma without obvious metastatic evidence. Malignant cells showed negativity for E-cadherin and positivity for β-catenin in the cytoplasm and nucleus. DNA sequencing performed on paraffin-embedded tissue revealed two exactly coincident alterations in CDH1, C.57T>G and C.1418A>T.

CONCLUSION

This case suggests that the combination of CDH1 mutations and WNT/β-catenin signaling activation contributes to the carcinogenesis of gastrointestinal SMPC.

Keywords: Multiple primary cancers; CDH1; Signet ring cell carcinoma; Stomach; Colon; Case report

Core tip: A 62-year-old woman was admitted with abdominal pain for one week. Gastrointestinal endoscopy revealed multiple small polypoid lesions in both the stomach and colorectum. A diagnosis of primary signet ring cell carcinoma was established based on the combination of pathological and imageologic evaluations. E-cadherin expression was downregulated in the malignant cells, where β-catenin was aberrantly translocated to the cytoplasm and nucleus. DNA sequencing indicated C.57T>G and C.1418A>T in CDH1, suggesting the important role of CDH1 mutations in the pathogenesis of synchronous multiple primary gastrointestinal cancers.