Objective To improve the awareness of small intestinal stromal tumor (SIST) and reduce misdiagnosis rate. Methods Retrospective analysis of 2 cases of small intestinal stromal tumor was made and the related literature was re-viewed. Results 13 cases of SIST were diagnosed in gastrointestinal surgery department of Nanjing Drum Tower Hospital dur-ing January 2013 and October 2014, including 2 misdiagnosed cases, and the misdiagnosis rate was 15. 38% . The first patient was admitted for right lower quadrant abdominal pain with a fever and was diagnosed with the periappendiceal abscess with the help of CT scanning result. After surgical exploration, the abscess and part of the small intestine were excised. The pathologi-cal and c-kit genetic diagnosis defined wild type of small intestinal stromal tumor ⅣB (T4N0cM0). The second patient was admitted for difficult defecation and abdominal bulge. CT and MRI examination suggested the pelvic occupying. During the op-eration, the tumor was found in the middle line of small intestine, fell to pelvic cavity, invaded and was adhered to surround-ing structure, and the patient underwent small intestine tumor resection. The pathological and genetic diagnosis defined small intestinal stromal tumor ⅢB (T3N0cM0) with mutation of c-kit gene exon 13 and PDGFRA gene exon 18. In the two cases, no postoperative radiation and chemotherapy and molecular targeted drug therapy were taken during a follow-up period of 4 to 5 months and no recurrence and metastasis were found. Conclusion SIST has a high misdiagnosis rate due to none specificity. Pelvic or abdominal occupying, or acute abdomen symptom it causes, gastrointestinal bleeding or anemia, especially a possible source of intestine revealed by imaging, gastrointestinal stromal tumor should be taken into account. To prevent misdiagnosis, it is necessary that surgical research and pathological examination should be conducted as soon as possible.%目的：提高对小肠间质瘤(small intestinal stromal tumor, SIST)的认识,减少误诊。方法回顾性分析2例 SIST 误诊病例资料,并复习相关文献。结果2013年1月—2014年10月南京鼓楼医院胃肠外科共确诊 SIST 13例,其中误诊2例,误诊率15.38%。例1以右侧腹痛伴发热入院,结合查体及 CT 检查报告诊断阑尾周围脓肿,手术切除脓肿及部分小肠,术后病理诊断为 SIST ⅣB(T4N0cM0)期,基因检测示为 c-kit 野生型。例2以排便困难伴下腹部坠胀入院,CT 及 MRI 检查提示盆腔占位性病变,手术探查发现肿瘤来自小肠中段,坠入盆腔并与周围组织浸润粘连,行小肠肿瘤切除术,术后病理诊断为 SIST ⅢB(T3N0cM0)期,基因检测示 c-kit 第13外显子、PDGFRA 第18外显子突变。术后均未予放化疗及分子靶向药物治疗,随访4~5个月,均未复发转移。结论 SIST 临床表现无特异性,误诊率较高。对于有消化道出血、贫血等症状,影像学提示肠道来源可能的盆腹部占位性病变,或由此引起的急腹症患者,需考虑胃肠道间质瘤可能,及时手术探查并行病理检查是避免误诊的重要措施。
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