Cheng Yu-Qing, Wang Geng-Fang, Zhou Xiao-Li, Lin Min, Zhang Xin-Wen, Huang Qin
Department of Pathology, The Affiliated Changzhou No. 2 People's Hospital of Nanjing Medical University, Changzhou 213164, Jiangsu Province, China.
Gastroenterology Center, The Affiliated Changzhou No. 2 People's Hospital of Nanjing Medical University, Changzhou 213164, Jiangsu Province, China.
World J Gastrointest Oncol. 2024 Feb 15;16(2):563-570. doi: 10.4251/wjgo.v16.i2.563.
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.
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 gene in the DNA repair pathway and a germline mutation of the gene, a common gastric cancer driver gene, in addition to pathogenic somatic mutations in and genes. The patient was alive without evidence of the disease 36 mo after ESD.
Early adenocarcinoma with an NEC component arising in the distal esophageal side of the GEJ region showed evidence of gastric origin.
早期腺癌合并神经内分泌癌（NEC）成分起源于胃食管交界（GEJ）区域者罕见，在年轻患者中更为罕见。在此，我们报告一名29岁中国男性的此类病例。
该患者因吞咽困难和反流3个月前来我院就诊。上消化道内镜检查显示在GEJ线以上1.6 cm处的食管远端有一个隆起性结节，无巴雷特食管或贲门受累。通过内镜黏膜下剥离术（ESD）将该结节完整切除。病理检查确诊为黏膜内腺癌合并NEC成分，大小为1.5 cm。免疫组化显示，腺癌和NEC成分的P53均呈阳性，Ki67指数为90%；NEC的突触素和嗜铬粒蛋白呈阳性。对196个基因进行二代测序，除了 基因和 基因的致病性体细胞突变外，还发现了DNA修复途径中 基因的一种新的种系突变以及一种常见的胃癌驱动基因 基因的种系突变。ESD术后36个月，患者存活且无疾病证据。
起源于GEJ区域食管远端侧的早期腺癌合并NEC成分显示出胃起源的证据。
