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目的：探讨直肠胃肠间质瘤（GIST）的临床特征和治疗及其预后因素。方法对中山大学肿瘤防治中心1990年1月至2012年10月收治的61例直肠GIST患者的临床资料和随访资料进行回顾性分析，并对病理标本进行复核；应用Kaplan-Meier法计算生存率，分别应用Log-rank检验和Cox回归模型对影响预后的因素进行单因素和多因素分析。结果61例直肠GIST患者中，男42例，女19例，中位年龄59岁。18例（29．5％）为术前活检确诊为GIST；46例首次病理诊断为GIST，另15例（24．6％，15/61；其中14例原诊断为平滑肌瘤或肉瘤，1例诊为神经鞘膜瘤）经复核病理标本后修正为GIST。肿瘤位于腹膜反折以上12例（19．7％），反折以下49例（80．3％）。经手术治疗52例，其中扩大切除术（同时作淋巴结清扫或联合脏器切除）21例，局部切除术（肿瘤剔除或直肠壁部分切除）31例。11例术前予以伊马替尼400 mg/d新辅助治疗，41例患者术后或活检诊断后以伊马替尼治疗，其中25例为术后复发姑息治疗。中位随访时间为55（6～391）月，52例手术者1、2、3和5年生存率分别为98.0％、95．6％、86．0％和73．7％；扩大切除术组5年生存率为82．6％，局部切除术组则为77．3％，两组差异无统计学意义（P＝0．947）；单因素分析结果显示，生存率仅与复发转移相关（P＝0．038）。多因素Cox回归分析显示，各项因素均与术后生存率无关（均P＞0．05）。但术后复发及远处转移患者口服伊马替尼治疗者的3年生存率优于未服药者（82．7％比71．4％）。结论直肠GIST多见于直肠下段。外科手术仍是治疗的核心，原则上施行局部完全切除即可，广泛切除或扩大淋巴结清扫不能提高生存率。伊马替尼有助于改善复发转移患者的预后。

Objective To explore the clinicopathological characteristics, efficacy, and prognostic factors for patients with rectal gastrointestinal stromal tumor (GIST). Methods Clinicopathological and follow-up data of 61 patients with rectal GIST in our department from January 1990 to Oc tober 2012 were analyzed retrospectively and pathology specimens were reviewed. Kaplan-Meier method was used to calculate the survival. Univariate analysis and multivariate analysis were performed to investigate the influencing factors of prognosis with Log-rank test and Cox regression model. Results There were 42 male and 19 female patients with a median age of 59 years old. Eighteen cases (29.5%) were confirmed preoperatively as GIST by biopsy and 46 cases were diagnosed as GIST by first pathological examination. Fifteen cases (24.6%) were revised as GIST after re-examination of specimes among whom 14 cases had been diagnosed as leiomyoma or sarcoma, and 1 as neurolemmoma. Tumor location was above peritoneal reflection in 12 cases (19.7%) and below peritoneal reflection in 49 (80.3%). Fifty-two patients underwent surgery, including 21 extended resections(lymph nodes clearance and combined organs resection simultaneously) and 31 local resections (tumor rejection or partial resection of rectal wall). Eleven patients received preoperative imatinib(400 mg/d). Forty-one cases received imatinib therapy after operation or biopsy diagnosis, including 25 cases who received palliative treatment for postoperative recurrence. Median follow-up time was 55 (6 to 391) months and follow-up longer than 2 years was carried out in 46 patients. Overall survival rates of 1-, 2-, 3-, 5-year were 98%, 95.6%, 86.0%and 73.7%respectively. There were no significant differences between local resection group (96.4%, 92%, 83.3%and 77.3%) and extended resection group (100%, 94.7%, 89.50%and 82.6%) (χ2=0.004, P=0.947). Univariate analysis showed that survival was only associated with recurrence and metastasis (χ2=4.292, P=0.038). Multivariate Cox analysis showed postoperative survival was not associated with any factors (all P>0.05). The 3-year survival rate of patients with postoperative recurrence or metastasis receiving imatinib therapy was better as compared to those who did not received imatinib (82.7%vs. 71.4%). Conclusions Rectal GIST are more common in the lower rectum. Surgery is the main treatment for rectal GIST. Local complete resection is the mainstay treatment. Extensive resection and lymph node clearance may not improve survival. Imatinib can improve the prognosis of patients with recurrence or metastasis.