摘要目的:分析胚芽型肾母细胞瘤临床特点和影响预后的临床危险因素。方法:回顾性分析2008年1月至2020年6月北京儿童医院收治的75例患儿的临床资料，均经术后病理证实为胚芽型肾母细胞瘤。男45例(60.0%)，女30例(40.0%)。诊断时平均年龄39.1(6~144)个月。临床表现为腹部包块35例(46.7%)、血尿24例(32.0%)、腹痛7例(9.3%)，体检发现9例(12.0%)。所有患儿术前均行影像学检查，腹部B超和增强CT检查均提示肾内实性占位，瘤内局部可见不规则增强回声。肿瘤直径≥5 cm者51例，<5 cm者24例。肿瘤体积(负荷)>1000 ml 29例，≤1000 ml 46例。肿瘤均为单侧，位于左侧38例(50.7%)，右侧37例(49.3%)。术前肿瘤破裂5例。患儿术前均未行化疗，直接行一期根治性肾切除术，其中10例术中清扫淋巴结数量>7枚；术中肿瘤破裂2例。根据美国肾母细胞瘤研究组临床分期标准，Ⅰ期30例，Ⅱ期28例，Ⅲ期15例，Ⅳ期2例；将Ⅰ、Ⅱ期定义为早期，Ⅲ、Ⅳ期定义为晚期。术后根据美国儿童肿瘤协作组(COG)方案，早期组患儿采用长春新碱+放线菌素D(EE4A)方案化疗，晚期组采用长春新碱+放线菌素D+阿霉素(DD4A)方案化疗并联合放疗。结果:本研究75例，7例术后行1p/16q杂合缺失基因检测，其中1例Ⅰ期，为1p/16q杂合同时缺失，化疗方案由EE4A升级为DD4A；1例Ⅱ期出现复发后检测，为1p/16q杂合同时缺失，改为长春新碱+放线菌素D+阿霉素+环磷酰胺+VP-16方案化疗；1例仅1p缺失，4例1p/16q检测阴性，维持原化疗方案。本组75例中67例(89.3%)获得随访。中位随访时间57个月。67例中，疾病无进展存活56例，复发或远处转移3例，死亡8例。5年疾病无进展生存率为74.7%，总生存率为88.0%。单因素和多因素分析结果显示，临床分期晚期( HR＝4.9，95% CI 1.2~19.6， P＝0.025)、肿瘤体积>1000 ml( HR＝1.7，95% CI 0.4~6.9， P＝0.048)、肿瘤破裂( HR＝20.1，95% CI 4.7~85.5， P<0.001)是影响胚芽型肾母细胞瘤预后的独立危险因素，性别、年龄、临床表现、肿瘤侧别、瘤栓、淋巴结清扫数量对胚芽型肾母细胞瘤的生存率无显著影响( P>0.05)。 结论:临床分期为晚期、肿瘤体积>1000 ml、肿瘤破裂是影响胚芽型肾母细胞瘤预后的临床危险因素。早期患儿出现疾病进展可能跟淋巴结清扫数量不足和未完善1p/16q杂合缺失的基因检查有关，导致患儿的风险分级被低估，治疗强度不足，造成肿瘤局部复发风险增加。

abstractsObjective:To describe the clinical features and analyze the prognostic factors of blastemaltype Wilms tumor. To explore the clinical risk factors affecting the prognosis of blastoma.Methods:Clinical data of 75 patients admitted to the surgery department of Beijing Children's Hospital from January 2008 to June 2020 who were confirmed to be blastemal-type Wilms tumor by postoperative pathology without preoperative chemotherapy. The patients' general information, clinical characteristics, inspection data, surgical methods and follow-up results were collected. The related factors which influences its prognosis were analyzed. Among the 75 patients, 45 cases (60.0%) were male and 30 cases (40.0%) were female. The diagnosis age was 6-144 m, mean age was 39.1 m. Left side: 38 cases (50.7%), right side: 37 cases (49.3%). The clinical manifestations were abdominal mass in 35 cases (46.7%), hematuria in 24 cases (32.0%), abdominal pain in 7 cases (9.3%) and physical examination in 9 cases (12.0%). There were Stage Ⅰ 30 cases, Stage Ⅱ 28 cases, Stage Ⅲ 15 cases, Stage Ⅳ 2 cases. There were preoperative tumor rupture in 5 cases, intraoperative tumor rupture in 2 cases. Clinical stage Ⅰ and Ⅱ were classified as early, while stage Ⅲ, Ⅳ were classified as late. According to COG protocol, stage Ⅰ and Ⅱ patients received EE4A, stage Ⅲ and Ⅳ patients received DD4A protocol and radiotherapy. The number of lymph nodes sampled during operation was more than 7 in 10 patients.Results:7 cases were tested for 1p16q. One case(stage Ⅱ) was absent at 1p/16q LOH, and chemotherapy was upgraded from EE4A to DD4A. After the recurrence of 1 case in clinical stage Ⅰ, the 1p/16q heterozygotic deletion test was performed, which was changed to M regimen chemotherapy. Only 1p lost in one case, and 1p/16q was negative in 4 cases, so the original chemotherapy regimen was maintained. A total of 67 patients were recruited to the study. The median follow-up time was 57 months. The 5-year relapse-free survival(RFS) rate was74.7%, and the 5-year overall survival(OS) rate was 88.0%. Cox multivariate regression analysis showed that: advanced clinical stage ( HR=4.9, 95% CI 1.2-19.6, P=0.025), tumor volume ( HR=1.7, 95% CI 0.4-6.9, P=0.048), and tumor rupture ( HR=20.1, 95% CI 4.7-85.5, P<0.001) were independent risk factors for prognosis of blastoma. Gender, age, side profile, clinical manifestations, tumor embolism, and number of lymph nodes sampled had no significant influence on the survival rate of blastoma ( P>0.05). Conclusion:Advanced stage (Ⅲ-Ⅳ), tumor volume≥1 000 ml, tumor weight and tumor rupture were independent risk factors for relapse. Insufficient lymph node sampling and incomplete 1p16q, may be the reasons for the increased risk of local recurrence in low-stage patients due to the underestimated risk classification and insufficient treatment intensity.