Early adenocarcinoma mixed with a neuroendocrine carcinoma component arising in the gastroesophageal junction: A case report
作者机构：Department of PathologyThe Affiliated Changzhou No.2 People’s Hospital of Nanjing Medical UniversityChangzhou 213164Jiangsu ProvinceChina Gastroenterology CenterThe Affiliated Changzhou No.2 People’s Hospital of Nanjing Medical UniversityChangzhou 213164Jiangsu ProvinceChina Graduate SchoolDalian Medical UniversityDalian 116044Liaoning ProvinceChina Department of PathologyBeth Israel Deaconess Medical Center and Harvard Medical SchoolBostonMA 02215United States
出 版 物：《World Journal of Gastrointestinal Oncology》 (世界胃肠肿瘤学杂志（英文版）（电子版）)
年 卷 期：2024年第16卷第2期
页 面：563-570页
核心收录：
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
基 金：Changzhou High-level Medical Talents Training Project of the Health Commission of the Changzhou City,No.2022CZBJ079 Changzhou Sci&Tech Program,No.CE20235064
主 题：Adenocarcinoma Neuroendocrine carcinoma Gastroesophageal junction Next generation sequencing Case report
摘 要：BACKGROUND Early adenocarcinoma mixed with a neuroendocrine carcinoma(NEC)component arising in the gastroesophageal junctional(GEJ)region is rare and even rarer in young ***,we report such a case in a 29-year-old Chinese *** SUMMARY This patient presented to our hospital with a 3-mo history of dysphagia and *** 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 *** nodule was completely resected by endoscopic submu-cosal dissection(ESD).Pathological examination confirmed diagnosis of intra-mucosal adenocarcinoma mixed with an NEC component,measuring 1.5 ***,both adenocarcinoma and NEC components were positive for P53 with a Ki67 index of 90%;NEC was positive for synaptophysin and ***-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 *** patient was alive without evidence of the disease 36 mo after *** Early adenocarcinoma with an NEC component arising in the distal esophageal side of the GEJ region showed evidence of gastric origin.
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