先天性中胚层肾瘤5例临床特点并文献复习

doi:10.12372/jcp.2022.21e1185

摘要/Abstract

摘要：

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。

关键词: 先天性中胚层肾瘤, ETV6-NTRK融合基因, 手术, 辅助化疗

Abstract:

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.

Key words: congenital mesoblastic nephroma, ETV6-NTRK fusion gene, surgery, adjuvant chemotherapy

张冬冬, 董佑红, 袁晓军. 先天性中胚层肾瘤5例临床特点并文献复习[J]. 临床儿科杂志, 2022, 40(6): 450-455.

ZHANG Dongdong, DONG Youhong, YUAN Xiaojun. Clinical diagnosis and treatment of 5 cases with congenital mesoblastic nephroma and literature review[J]. Journal of Clinical Pediatrics, 2022, 40(6): 450-455.

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参考文献 31

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病例	性别	起病年龄	确诊年龄	肿瘤大小 /cm	ETV6-NTRK	NWST 分期	病理分型	治疗方案	化疗相关毒性	疗效评价	治疗结局	随访时间/月
1	女	出生前34周	38 d	9×6×7	阴性	II期	混合型	手术→9×VAC	IV度骨髓抑制	CR	1年后复发	13
2	男	8个月	9个月	12×8×6	阳性	III期	细胞型	手术→9×VAC	-	CR	无病生存	22
3	男	出生前36周	3个月	6×3×4	阴性	III期	混合型	2×VAC→手术→7× VAC	-	CR	无病生存	34
4	男	出生前33周	11 d	6×5×4	阴性	I期	经典型	手术→随访	未化疗	CR	无病生存	15
5	男	11个月	11个月	15×13×9.5	阳性	III期	细胞型	手术→9×VAC	IV度骨髓抑制,肝功异常	CR	无病生存	11

年份	国家/研究机构	病例数			治疗方案		EFS/%	OS/%
年份	国家/研究机构	经典型	细胞型	混合型	单纯手术	手术+化疗	EFS/%	OS/%
1982^[1]	NWST	51			23	28 (A/VA)	—	98 (1年)
1985^[26]	SIOP	9	20	-	24	5	93(4年)	93(4年)
2006^[19]	SIOP/GPOH	29	21	-	41	9 (V/VA/VAD)	94(4.2年)	95(4.2年)
2008^[29]	美国/多伦多	30	14	3	-	-	-	-
2011^[12]	英格兰/CCLG	23	14	10	46	2 (VA/VAC)	100(4.4年)	100(4.4年)
2017^[31]	SIOP/GPOH	67	29	15	98	91 (VA)	93.2(5年)	96.8(5年)