目的 回顾性分析先天性中胚层肾瘤的临床特点、治疗方案及临床结局,为中胚层肾瘤的临床诊疗提供思路和依据。方法 回顾性分析2013年1月至2020年12月新华医院儿血液肿瘤科初诊为先天性中胚层肾瘤患儿的发病年龄、肿瘤大小、病理分型、ETV6-NTRK融合基因、治疗方案及临床结局。结果 7年内共收治5例新发中胚层肾瘤患儿,4例男婴,1例女婴;中位确诊年龄4.5个月（0.3~11个月）。3例产检时发现肾脏肿块且出生后早期确诊的患儿ETV6-NTRK融合基因均阴性,2例确诊年龄>6个月患儿ETV6-NTRK融合基因均阳性。肿瘤分期：I期1例,II期1例,III期3例;病理分型：经典型1例,细胞型2例（II期患儿为具有上皮样形态的细胞型）, 混合型2例。所有患儿均接受手术治疗,其中1例行2周期新辅助化疗后手术切除;III期患儿术后予9周期VAC方案化疗。中位随访时间19个月（11~34个月）,1例II期患儿在手术+化疗综合治疗结束后1年复发,其余均无病生存。结论 先天性中胚层肾瘤患儿在手术联合辅助化疗后,大部分预后良好。患儿确诊年龄一般<1岁,部分患儿可因产检时肾脏肿块而早期确诊。手术仍是主要治疗手段,I期和II期患儿术后可观察随访;对于III期细胞型和混合型患儿,术后辅助化疗可降低复发率。

Objective The clinical characteristics, treatment strategies and clinical outcomes of congenital mesoblastic nephroma (CMN) were retrospectively analyzed and CMN diagnosis and treatment were summarized. Methods The age at onset, tumor size, pathological classification, ETV6-NTRK fusion gene, treatment regimens and clinical outcomes of children newly diagnosed with CMN admitted to the Department of Pediatric Hematology/Oncology, Xinhua Hospital from January 2013 to December 2020 were analyzed. Results A total of 5 children with CMN were admitted in 7 years, including 4 boys and 1 girl. The median age of diagnosis was 4.5 months (0.3-11 months). In 3 patients, renal mass was found during obstetric examination, and CMN was diagnosed early after birth, and ETV6-NTRK fusion gene was negative. The CMN diagnosis age was older than 6 months in 2 patients, and the ETV6-NTRK fusion gene was positive. The tumor stages were stageⅠ (1 case), StageⅡ (1 case), and stage Ⅲ (3 cases). Pathological classification was as follows: 1 case was classical, 2 cases were cellular (stageⅡchild with epithelioid type), and 2 cases were mixed. All the children underwent surgery. One child received surgical resection after 2 cycles of neoadjuvant chemotherapy. The stage Ⅲ children received 9 cycles of VAC chemotherapy after surgery. The median follow-up time was 19 months (11-34 months). One stageⅡchild relapsed 1 year after the completion of combined treatment with surgery and chemotherapy, while the rest of the children were disease-free. Conclusions Most children with CMN have a good prognosis after surgery combined with adjuvant chemotherapy. The age of diagnosis is generally less than 1 year old, and some children can be diagnosed early because of obstetric examination. Surgery is still the main treatment, and postoperative follow-up can be applied for stage Ⅰ and Ⅱ patients. Postoperative adjuvant chemotherapy can reduce the recurrence rate in stage Ⅲ cases.