先天性腹膜后囊性神经母细胞瘤一例

Congenital retroperitoneal cystic neuroblastoma: a case report

神经母细胞瘤是常见的小儿颅外实质性恶性肿瘤,但腹膜后囊性的神经母细胞瘤罕见。该文报道1例腹膜后囊性神经母细胞瘤患儿,其为男性,于40+5周时出现胎心率下降、产程未发动而通过剖宫产术娩出。产前5 d患儿母亲于孕检时发现胎儿存在腹腔囊肿,患儿出生后行荧光原位杂交技术基因扩增检测示N-myc基因扩增。生后第2日患儿即在全身麻醉下接受肿物切除术,经病理检查确诊为腹膜后囊性神经母细胞瘤,术后常规予抗感染及对症、支持等治疗,患儿恢复良好,出院后末次随访暂未见肿瘤复发或转移。N-myc基因扩增与预后不良相关,故对于N-myc基因扩增的神经母细胞瘤患儿宜尽早实施手术治疗以提高其生存率。

Neuroblastoma is the most common extracranial solid tumor in children, whereas the retroperitoneal cystic neuroblastoma is rarely encountered. In this article, one child of retroperitoneal cystic neuroblastoma was reported. The male infant presented with a decline in the fetal heart rate at a gestational age of 40+5 weeks. He was delivered by cesarean section due to no signs of imminent delivery. At 5 d before delivery, abdominal cysts were found in the fetus during pregnancy examination. Fluorescence in situ hybridization(FISH) was applied to neuroblastoma for detection of N-myc oncogene amplification after birth. At 2 d after birth, the infant underwent tumor resection under general anesthesia. He was diagnosed with retroperitoneal cystic neuroblastoma by pathological examination. Anti-infection, symptomatic and supportive therapies were delivered after surgery. The child was properly recovered and discharged. No tumor recurrence or metastasis was noted during the final follow-up. The amplification of N-myc was significantly correlated with poor clinical prognosis. For children with retroperitoneal cystic neuroblastoma with N-myc amplification, surgical treatment should be performed as early as possible to enhance the survival rate.