Department of Surgery, Takatsuki Red Cross Hospital, 1-1-1 Abuno, Takatsuki, Osaka 569-1096, Japan.
Surg Today. 2012 Jan;42(1):84-8. doi: 10.1007/s00595-011-0011-x. Epub 2011 Nov 3.
A 64-year-old man was admitted to our hospital with hematemesis. Emergency upper gastrointestinal endoscopy revealed bleeding from a submucosal tumor (SMT) in the antrum of the stomach, with two other SMTs at different sites. Based on his family history, we diagnosed familial multiple gastric gastrointestinal stromal tumors (GISTs) and performed laparoscopic total gastrectomy. Three distinct tumors were found: one in the fornix, one in the lesser curvature of the angle, and one in the antrum of the stomach. Microscopic examination of the resected specimens revealed different cytomorphologies, of the spindle and epithelioid type, as well as immunophenotypes in the tumors. Mutation analysis revealed different sites of mutation in c-kit and PDGFRA. No mutation was detected in the normal tissue of the stomach. These findings confirmed a diagnosis of multiple sporadic gastric GISTs. Thus, investigating germline mutation might assist in the preoperative diagnosis of multiple gastric GISTs.
一位 64 岁男性因呕血入住我院。急诊上消化道内镜检查显示胃窦部黏膜下肿瘤（SMT）出血，另外两个 SMT 位于不同部位。根据家族史，我们诊断为家族性多发性胃胃肠道间质瘤（GIST），并进行了腹腔镜全胃切除术。发现了三个不同的肿瘤：一个位于穹窿，一个位于胃角小弯，一个位于胃窦。切除标本的显微镜检查显示不同的细胞形态，梭形和上皮样类型，以及肿瘤的免疫表型。突变分析显示 c-kit 和 PDGFRA 不同部位的突变。胃正常组织未发现突变。这些发现证实了多发性散发性胃 GIST 的诊断。因此，研究种系突变可能有助于多发性胃 GIST 的术前诊断。
