目的 探讨原发性胃肠外来源胃肠间质瘤（extragastrointestinal stromal tumors，EGISTs）的临床病理特征及预后影响因素，并复习相关文献。 方法 回顾性收集2006年1月~2017年8月广东省人民医院收治的原发性EGISTs临床资料，并进行描述性分析。 结果 共收集到15例原发性EGISTs，所有病例经病理确诊。其中男性11例，女性4例；中位发病年龄为45岁（33~70岁）。首发症状多为腹盆腔包块或腹痛。原发部位中，有4例位于腹膜后，4例位于结肠系膜，3例位于小肠系膜，1例位于盆腔，1例位于左侧胸膜腔，1例位于胰腺被膜，1例位于小网膜囊。中位随访时间为53个月（1~102个月）。免疫组化显示，14例CD117表达阳性（14/15），10例CD34表达阳性（10/15），6例患者DOG-1表达阳性（6/8）。有7例患者接受基因检测，2例c-KIT基因外显子9突变，2例c-KIT基因外显子11突变，1例PDGFRa基因外显子12同义突变，2例未检测到c-KIT基因及PDGFRa基因突变。依据改良NIH（National Institutes of Health）标准进行危险度分级，5例高危病例行R0术后接受伊马替尼靶向治疗，平均生存期为67个月；高危患者中8例未行辅助靶向治疗，平均生存期为36.58个月。有8例在随访过程中出现复发转移，8例出现肿瘤相关性死亡。 结论 EGISTs发病率低，症状多为腹盆腔包块，预后差；其病理特征与常见的胃肠来源的GISTs相仿。R0手术切除是治疗首选，伊马替尼辅助治疗有利于改善预后并预防复发转移。
Objective To investigate the clinical and pathological features of primary extragastrointestinal stromal tumors (EGISTs) and analyze the potential prognostic factors. Methods The EGISTs patients admitted to Guangdong Provincial People's Hospital from January 2006 to August 2017 were analyzed. All cases underwent surgical resection of the tumor and further pathological diagnosis. All patients were followed up. Results A total of 15 patients who were pathologically confirmed as EGISTs were collected in 11 years. Among the 15 patients, 11 were male and 4 were female, with the average median age of onset was 45 years (33~70 years). In the clinical manifestations, the most initial symptoms were abdominal mass. As for tumor location, retroperitoneum (4 cases), mesocolon (4 cases), small intestinal mesentery (3 cases), pelvic cavity (1 case), left pleural cavity (1 case), pancreatic capsule (1 case), and lesser omentum (1 case) were observed. The median follow-up time was 53 months on average (ranged 1~102 months). Immunohistochemical report showed that CD117 of 14 cases positive expression(14/15), CD34 of 10 cases positive (10/15), DOG-1 of 6 cases positive (6/8). 7 patients received gene detection, while 2 cases found c-KIT gene exon 9 mutation, 2 cases c-KIT gene exon 11 mutation, 1 cases PDGFRa gene exon 12 mutation, 2 cases without any c-KIT gene or PDGFRa gene mutation. According the standard of reformative National Institutes of Health to classify the risk, five high-risk patients received R0 postoperative adjuvant imatinib therapy (average survival time was 67 months), while eight high-risk patients did not receive adjuvant therapy (average survival time was 36.58 months). Eight patients had appeared recurrence metastasis during follow-up, and eight patients had occurred tumor-related death. Conclusions Extragastrointestinalstromal tumors, whose most common symptom is abdominal mass, have low incidence and poor prognosis. The pathological features of EGISTs are similar to those of gastrointestinal stromal tumors (GISTs). R0 resection is the crucial treatment, and adjuvant imatinib therapy is beneficial to improve prognosis and prevent recurrence metastasis.
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