儿童神经母细胞瘤染色体分析  

Chromosome analysis in neuroblastoma of children

作　　者：赵倩[1] 张大伟[1] 李蓓[1] 李彬[1] 金眉[1] 赵文[1] 王希思[1] 段超[1] 李兴军[1] 郝腾[1] 黄程[1] 马晓莉[1] 

机构地区：[1]首都医科大学附属北京儿童医院血液肿瘤中心,儿童血液病与肿瘤分子分型北京市重点实验室,儿科学国家重点学科,北京100045

出　　处：《中国小儿血液与肿瘤杂志》2014年第5期250-253,共4页Journal of China Pediatric Blood and Cancer

基　　金：北京市医院管理局临床医学发展专项经费资助;编号:ZY201404

摘　　要：目的总结55例神经母细胞瘤(NB)患儿的染色体结果,分析与临床特点及近期治疗效果的关系,提高对伴有染色体异常NB的认识。方法回顾性分析55例NB患儿的临床资料,包括分期分组、肿瘤标记物、染色体结果、治疗方案及近期预后情况。结果 55例NB患儿中有4例存在17q获得(7%),1例患儿同时存在17q获得及1p缺失(2%),余50例(91%)患儿染色体检查均正常。伴有染色体异常的5例患儿肿瘤标记物在病初均有不同程度的增高,而且血神经元特异性烯醇化酶(NSE)高于染色体正常组;5例染色体异常患儿均为Ⅳ期、高危组,均伴有MYCN基因获得,其中1例在治疗过程中失访,余4例中有2例肿瘤进展,1例死亡,1例经化疗联合手术切除及自体造血干细胞移植,门诊随访33个月疾病稳定。结论结果提示染色体1p缺失和17q获得可能是NB的预后不良因素,染色体异常在NB的诊断及预后评估中具有一定临床指导意义。但本研究中的异常染色体检出率偏低,考虑与常规检测的误差有关,方法学有待进一步改进。Objective To study the relationship between clinical features and chromosome status in55 children with neuroblastoma in our hospita. Methods The clinical data of 55 children with NB were retrospectively analyzed,including clinical features,prognostic factors,chromosome status,therapy and short-term prognosis. Results There were chromosomal abnormalities in 5 cases,including 17 q gain（7%）in 4,17 q gain and 1p deletion（2%）in 1. Tumor markers in 5 cases with chromosomal abnormalities included elevation in different range in those neuroblastoma patients,and NSE was much higher than patients with normal chromosome; All 5 cases with chromosomal abnormalities had MYCN amplication,During the treatment,1 case was lost for follow-up,2 cases progressed,1 case died,one with both 17 q gain and 1p deletion got complete remission after regular chemotherapy,surgery and autologous peripheral blood stem cell transplantation,lasted for 33 months Conclusions Based on our data： 17 q gain and 1p deletion were risk factors in NB,and the prognosis was better in patients with normal chromosome.

关 键 词：神经母细胞瘤 儿童 染色体 肿瘤标记物 MYCN基因 

分 类 号：R739.41[医药卫生—肿瘤]