Cheng YQ, Wang GF, Zhou XL, Lin M, Zhang XW, Huang Q. Early adenocarcinoma mixed with a neuroendocrine carcinoma component arising in the gastroesophageal junction: A case report. World J Gastrointest Oncol 2024; 16(2): 563-570 [PMID: 38425401 DOI: 10.4251/wjgo.v16.i2.563]
Corresponding Author of This Article
Qin Huang, MD, PhD, Chief Doctor, Department of Pathology, the Affiliated Changzhou No. 2 People’s Hospital of Nanjing Medical University, No. 68 Gehu Road, Wujin District, Changzhou 213164, Jiangsu Province, China. qinhuang0122@gmail.com
Research Domain of This Article
Pathology
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/
Yu-Qing Cheng, Geng-Fang Wang, Xiao-Li Zhou, Xin-Wen Zhang, Qin Huang, Department of Pathology, The Affiliated Changzhou No. 2 People’s Hospital of Nanjing Medical University, Changzhou 213164, Jiangsu Province, China
Min Lin, Gastroenterology Center, The Affiliated Changzhou No. 2 People’s Hospital of Nanjing Medical University, Changzhou 213164, Jiangsu Province, China
Xin-Wen Zhang, Graduate School, Dalian Medical University, Dalian 116044, Liaoning Province, China
Qin Huang, Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, United States
Author contributions: Cheng Y and Wang G analyzed the data and wrote the manuscript. Zhou X and Lin M gathered and evaluated the clinicopathological data. Zhang X helped gather the clinicopathological data. Huang Q conceptualized, reviewed and modified the manuscript.
Supported byChangzhou High-level Medical Talents Training Project of the Health Commission of the Changzhou City, No. 2022CZBJ079; and Changzhou Sci&Tech Program, No. CE20235064.
Informed consent statement: Informed written consent was obtained from the patient for the publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report having 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).
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: Qin Huang, MD, PhD, Chief Doctor, Department of Pathology, the Affiliated Changzhou No. 2 People’s Hospital of Nanjing Medical University, No. 68 Gehu Road, Wujin District, Changzhou 213164, Jiangsu Province, China. qinhuang0122@gmail.com
Received: November 7, 2023 Peer-review started: November 7, 2023 First decision: December 4, 2023 Revised: December 9, 2023 Accepted: January 4, 2024 Article in press: January 4, 2024 Published online: February 15, 2024
Abstract
BACKGROUND
Early adenocarcinoma mixed with a neuroendocrine carcinoma (NEC) component arising in the gastroesophageal junctional (GEJ) region is rare and even rarer in young patients. Here, we report such a case in a 29-year-old Chinese man.
CASE SUMMARY
This patient presented to our hospital with a 3-mo history of dysphagia and regurgitation. Upper endoscopy revealed an elevated nodule in the distal esophagus 1.6 cm above the GEJ line, without Barrett’s esophagus or involvement of the gastric cardia. The nodule was completely resected by endoscopic submucosal dissection (ESD). Pathological examination confirmed diagnosis of intramucosal adenocarcinoma mixed with an NEC component, measuring 1.5 cm. Immunohistochemically, both adenocarcinoma and NEC components were positive for P53 with a Ki67 index of 90%; NEC was positive for synaptophysin and chromogranin. Next-generation sequencing of 196 genes demonstrated a novel germline mutation of the ERCC3 gene in the DNA repair pathway and a germline mutation of the RNF43 gene, a common gastric cancer driver gene, in addition to pathogenic somatic mutations in P53 and CHEK2 genes. The patient was alive without evidence of the disease 36 mo after ESD.
CONCLUSION
Early adenocarcinoma with an NEC component arising in the distal esophageal side of the GEJ region showed evidence of gastric origin.
Core Tip: We report a 29-year-old man with a 1.5-cm intramucosal adenocarcinoma with a neuroendocrine carcinoma component, which arose in the columnar-lined esophagus within 1.6 cm above the gastroesophageal junction (GEJ), without Barrett’s esophagus. Next-generation sequencing revealed a novel germline mutation of the ERCC3 gene in the DNA repair pathway of gastric cancer and a germline mutation of the RNF43 gene as a tumor suppressor in gastric cancer. Our findings suggest this early-onset GEJ carcinoma originated from gastric cardiac mucosa with genetic abnormalities involved in the DNA repair pathway.
