先天性神经母细胞瘤临床病理学特征分析

Analysis of Clinicopathological Features of Congenital Neuroblastoma

目的探讨先天性神经母细胞瘤(NB)的临床病理学特征。方法收集7例先天性NB的临床病理资料并进行随访,采用免疫组化方法检测ZEB1、E-cadherin、N-cadherin、ALK、CD99、CK和cyclinD1的表达情况,荧光原位杂交检测N-MYC基因。结果7例患儿中男童2例,女童5例;手术/穿刺年龄为26~142天,平均52天;送检标本部位:腹膜后和肾上腺各2例,纵膈、颈部和右大腿各1例;临床分期:Ⅰ期2例、Ⅱ期1例、Ⅲ期2例、Ⅳ期1例、Ⅳs期1例。7例NB中分化差型6例,1例穿刺标本为非特指;7例NB中ZEB1、E-cadherin、N-cadherin、ALK、CD99、CK和cyclinD1的阳性率分别为83.3%(5/6)、33.3%(2/6)、50.0%(3/6)、57.1%(4/7)、0(0/7)、0(0/6)和100.0%(5/5)。N-MYC基因扩增阴性率为100%(7/7)。结论先天性NB组织学以分化差型多见,总体预后较好。ALK蛋白表达可能与预后无关。先天性NB存在上皮间质转化现象,其意义及机制有待进一步研究。

Objective To investigate the clinicopathological features of congenital neuroblastoma(NB).Methods The clinicopathological data of 7 patients with congenital NB were collected and followed up.The expressions of ZEB1,E-cadherin,N-cadherin,ALK,CD99,CK and cyclinD1 were detected by immunohistochemistry and N-MYC gene was detected by fluorescence in situ hybridization(FISH).Results Among the 7 patients,there were 2 boys and 5 girls.The age of operation/needle biopsy ranged from 26 days to 142 days,with an average of 52 days.The sites of specimens were retroperitoneal(n=2),adrenal(n=2),mediastinum(n=1),neck(n=1)and right thigh(n=1),respectively.The Clinical stages were:stageⅠ(n=2),stageⅡ(n=1),stageⅢ(n=2)and stageⅣ(n=1).Among the 7 cases of NB,6 cases were poorly differentiated,and 1 case of biopsy specimen was non-specific.The positive rates of ZEB1,E-cadherin,N-cadherin,ALK,CD99,CK and cyclinD1 in 7 cases of NB were 83.3%(5/6),33.3%(2/6),50%(3/6),57.1%(4/7),0(0/7),0(0/6)and 100%(5/5),respectively.The negative rate of N-MYC gene amplification was 100%(7/7).Conclusion The histological type of congenital NB is mainly poorly differentiated and the overall prognosis is good.The expression of ALK protein may not be related to the prognosis.There is epithelial-mesenchymal transformation in congenital NB,and its significance and mechanism need to be further studied.