无明显原发灶神经母细胞瘤的临床诊疗特点分析  

Clinical diagnoses and treatments of neuroblastoma without an apparent primary lesion

作　　者：翁书婷 解鲁璐 刘百慧[1] 谢斯琦 董岿然[1] Weng Shuting;Xie Lulu;Liu Baihui;Xie Siqi;Dong Kuiran(Department of Surgery,Children's Hospital of Fudan University,National Children's Medical Center,Shanghai 201102,China)

机构地区：[1]国家儿童医学中心,复旦大学附属儿科医院外科,上海201102

出　　处：《中华小儿外科杂志》2024年第2期97-101,共5页Chinese Journal of Pediatric Surgery

基　　金：唐仲英基金会(ZSBK0070)。

摘　　要：目的探讨无明显原发灶神经母细胞瘤(neuroblastoma,NB)的临床特征、诊断方法及预后特点。方法收集复旦大学附属儿科医院2012年6月至2020年2月收治的11例无原发灶神经母细胞瘤患儿的临床资料,其中男4例,女7例。NB分期采用国际神经母细胞瘤分期系统(International Neuroblastoma Staging System,INSS),危险分度依据美国儿童肿瘤协作组(Children's Oncology Group,COG)危险度分组标准,所有患儿在确诊NB并确定临床分期后,根据COG危险度分组并进行分层治疗。患儿在治疗完成后采取门诊随访及电话随访,随访时间截至2022年4月21日。结果 11例临床诊断为NB,但颈部、纵隔、后腹膜、盆腔及颅内均未发现原发灶。中位发病年龄为18.5(11.8,27.3)个月。首发症状表现为发热(4例),腹胀(2例),下肢疼痛(2例),乏力纳差(1例),皮肤黄染(1例),发现体表肿物(1例),眼眶青紫(1例)。转移情况为多发骨转移伴骨髓转移(7例),肝转移(3例),背部肌肉转移(1例)。11例均完成神经元特异性烯醇化酶(neuron-specific enolase,NSE)检测,升高者占9例;9例完成乳酸脱氢酶(lactate dehydrogenase,LDH)检测,升高者占8例;7例完成24 h尿香草扁桃酸(vanillylmandelic acid,VMA)检测,升高者占5例。根据INSS分期,Ⅳ期9例,Ⅳs期2例。3例未接受肿瘤相关治疗患儿均死亡,接受治疗的患儿中1例死亡,7例存活至今。总体5年累积生存率为62.3%,其中接受肿瘤相关治疗患儿5年累积生存率为85.7%,中位生存时间为88个月。结论无明显原发灶NB早期诊断困难,容易漏诊、误诊,主要依赖肿瘤转移灶或骨髓转移的病理学检测来确诊,经过规范化治疗能够取得较好的治疗效果。Objective To explore the clinical features,diagnostic modalities and outcomes of neuroblastoma(NB)without an apparent primary tumor in children.Methods From June 2012 to February 2020,the relevant clinical data were retrospectively reviewed for 11 hospitalized NB children.There were 4 boys and 7 girls.NB was staged according to the International Neuroblastoma Staging System(INSS)and risk grouping was based upon the criteria of Children's Oncology Group(COG).After a definite diagnosis of NB,all children received stratified treatment according to the result of risk grouping.Follow-ups were conducted by outpatient examination and telephone interviews and the last follow-up was until April 21,2022.Result No primary tumor was detected in neck,mediastinum,posterior peritoneum,pelvic cavity or head.Median age of onset was 18.5(11.8,27.3)months.Initial symptoms included fever(n=4),abdominal distension(n=2),lower limb pain(n=2),fatigue&poor appetite(n=1),jaundice(n=1),body surface mass(n=1)and orbital cyanosis(n=1).Metastases involved multiple bone marrow(n=7),liver(n=3)and back muscle(n=1).Neuron-specific enolase(NSE)was all positive(n=11),and 9 cases had an elevated level.Lactate dehydrogenase(LDH)was all positive(n=9),and 8 cases had an elevated level.And 24h urine vanillylmandelic acid(VMA)level was elevated in 5 cases.According to the INSS staging system,the stages wereⅣ(n=9)andⅣs(n=2).Three cases receiving no tumor-related treatment and 1/8 treated cases died.The 5-year overall survival rate was 62.3%,the 5-year survival rate of children receiving tumor-related treatment 85.7%and the median survival 88 months.Conclusion An early diagnosis is difficult for NB without apparent primary tumor.Also its misdiagnosis and underdiagnosis are quite common.A definite diagnosis is dependent upon a pathological examination of metastatic lesions or bone marrow.After standardized treatment,a relatively decent therapeutic outcome may be obtained.

关 键 词：神经母细胞瘤 肿瘤转移 诊断 预后 儿童 

分 类 号：R739.4[医药卫生—肿瘤]