Zhang HF, Zheng Y, Wen X, Zhao J, Li J. Gastric neuroendocrine tumors in a BRCA2 germline mutation carrier: A case report. World J Gastrointest Oncol 2023; 15(8): 1497-1504 [PMID: 37663942 DOI: 10.4251/wjgo.v15.i8.1497]
Corresponding Author of This Article
Jun Li, Doctor, Chief Physician, Department of Pathology, The First Affiliated Hospital, Medical College, Zhejiang University, No. 79 Qingchun Road, Hangzhou 310000, Zhejiang Province, China. 1101025@zju.edu.cn
Research Domain of This Article
Oncology
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 Oncol. Aug 15, 2023; 15(8): 1497-1504 Published online Aug 15, 2023. doi: 10.4251/wjgo.v15.i8.1497
Gastric neuroendocrine tumors in a BRCA2 germline mutation carrier: A case report
Hui-Fang Zhang, Yi Zheng, Xue Wen, Jing Zhao, Jun Li
Hui-Fang Zhang, Yi Zheng, Xue Wen, Jing Zhao, Jun Li, Department of Pathology, The First Affiliated Hospital, Medical College, Zhejiang University, Hangzhou 310000, Zhejiang Province, China
Author contributions: Li J designed and wrote the case report and performed the literature search; Zhang HF, Zhen Y, and Wen X assisted in the literature search and wrote the paper; Zhao J participated in the data acquisition and analysis.
Supported byNatural Science Foundation of Zhejiang Province, No. LQ20H1600036 (to Wen X).
Informed consent statement: Informed written consent was obtained from the patient for the publication of this report.
Conflict-of-interest statement: No competing financial interests exist.
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: Jun Li, Doctor, Chief Physician, Department of Pathology, The First Affiliated Hospital, Medical College, Zhejiang University, No. 79 Qingchun Road, Hangzhou 310000, Zhejiang Province, China. 1101025@zju.edu.cn
Received: April 8, 2023 Peer-review started: April 8, 2023 First decision: May 27, 2023 Revised: June 7, 2023 Accepted: July 18, 2023 Article in press: July 18, 2023 Published online: August 15, 2023
Abstract
BACKGROUND
The molecular changes present in gastric neuroendocrine tumors (NETs) include a loss of heterozygosity or mutation of MEN1, CDKN1B gene mutation, P27 heterozygous mutation, and ATP4A gene missense mutation. We identified and are the first to report a case of type 1 histamine-producing enterochromaffin-like cell NETs (ECL-cell NETs) with a BRCA2 gene germline mutation.
CASE SUMMARY
The patient had a history of iron-deficient anemia for 5 years, and gastroscopic examination indicated multiple gastric tumors. Then, the patient underwent distal gastrectomy. Microscopically, multifocal tumor cells were found in the mucosa and submucosa; tumor cells were organoid and arranged in nests and cords, and the stroma was rich in sinusoids. The surrounding gastric mucosa showed atrophy with mild intestinal metaplasia or pseudopyloric gland metaplasia. Neuroendocrine cells could be seen with diffuse linear, nodular, and adenomatous hyperplasia. Immunohistochemically, the tumor cells diffusely expressed cytokeratin, chromogranin, synaptophysin, and CD56. Whole-genome high-throughput molecular sequencing revealed a pathogenic germline mutation in the BRCA2 gene, a heterozygous germline frameshift mutation in exon 11, c.6443_6444del (p.S2148Yfs*2). The final diagnosis was gastric type 1 ECL-cell NETs with a BRCA2 gene germline mutation, accompanied by autoimmune gastritis.
CONCLUSION
This is the first report of a case of type 1 gastric ECL-cell NETs with a pathogenic germline mutation of the BRCA2 gene. The findings of this report will expand the germline mutation spectrum of gastric NETs and increase the understanding of the molecular changes present in these tumors for their improved diagnosis in the future.
Core Tip: Type 1 enterochromaffin-like neuroendocrine tumors (ECL-cell NETs) occur most frequently and are associated with autoimmune gastritis. In gastric neuroendocrine tumors, molecular changes occur in genes including MEN1, CDKN1B, P27, and ATP4A. This is the first report of type 1 ECL-cell NETs with a pathogenic germline mutation of the BRCA2 gene.
