摘要目的 分析小儿神经母细胞肿瘤(NT)的临床病理学特征,探讨MYCN扩增病例形态学改变及其在NT预后的意义.方法 回顾性分析267例小儿NT的临床病理资料.其中119例经荧光原位杂交(FISH)检测MYCN基因扩增情况,探讨MYCN扩增及其与病理形态学指标的关系,并进行预后分析.结果 267例小儿NT中,年龄1 d至13岁,中位数为27个月;男女比例为1.43∶ 1.00;组织学预后良好型157例(59.9％),组织学预后不良型110例(40.1％);临床分期,Ⅰ期38例(14.2％),Ⅱ期43例(16.1％),Ⅲ期71例(26.6％),Ⅳ期115例(43.1％,其中Ⅳs期8例).119例NT中18例MYCN扩增(15.1％),MYCN与第2号染色体信号比值为4.08～43.29;MYCN无扩增101例,其中包括获得79例(66.3％),阴性22例(18.5％).MYCN的表达在不同年龄、性别、NT分型以及核分裂-核碎裂指数(MKI)高低组间差异有统计学意义(P =0.000),而与组织学预后分组及临床分期无关(P＞0.05).18例MYCN扩增病例中未分化型3例,其余15例为分化差型;17例具有高MKI,1例为中MKI;均属组织学预后不良组.3例存活,15例死亡,平均生存期为(17.9±2.4)个月.MYCN未扩增病例101例,69例存活(68.3％),32例死亡(31.7％),平均生存期(29.8±1.3)个月.生存分析结果显示,MYCN扩增患儿预后较差(P＜0.05).结论 NT发病年龄小,易转移,组织学分型多为预后良好型;MYCN基因扩增病例组织学均表现为预后不良型,多伴高MKI;MYCN基因扩增患儿预后差.

abstractsObjective To summarize the clinicopathologic features of neuroblastic tumors (NT),and to explore the prognostic significance of MYCN amplification in NT.Methods The clinicopathologic data of 267 NT were reviewed.MYCN gene amplification was detected by fluorescence in situ hybridization (FISH) in 119 cases and the relationship with pathological characteristics and prognostic significance were analyzed.Results The study included 267 cases of children NT from patients aged from 1 day to 13 years (median 27 months).The male to female ratio was 1.43.There were 38 cases (14.2％),43 cases (16.1％),71 cases (26.6％),and 115 cases (43.1％)of INSS stages Ⅰ,Ⅱ,Ⅲ and Ⅳ respectively.Favorable histology group had 157 cases (59.9％) ; unfavorable histology group had 110 cases (40.1％).Of the 119 NT cases with MYCN FISH performed,18 cases (15.1％) showed amplification and the signal ratio of MYCN to CEP2 was 4.08-43.29.One hundred and one cases of non-amplified MYCN included MYCN gain in 79 cases (66.3％) and MYCN negative in 22 cases (18.5％).MYCN expression showed significant difference (P =0.000) between ages,gender,NT type and MKI,but not INPC and clinical stage (P ＞ O.05).Of the 18 cases with MYCN amplification,3 were undifferentiated,and 15 poorly differentiated; 17 had high MKI and one moderate MKI.All 18 cases were in unfavorable histology group; the overall survival rate was 3/18,with an average survival time of (17.9 ± 2.4) months.Of the 101 MYCN non-amplification cases,the overall survival rate was 68.3％ (69/101),with an average survival time of (29.8 ± 1.3) months.Survival analysis showed the cases with MYCN amplification had worseprognosis (P.＜ 0.05).Conclusions NT were commonly diagnosed in early ages and easily to metastasize.Most of cases with favorable histology.The cases of MYCN amplification showed unfavorable histology,andthe majority cases with high MKI; The patients with MYCN gene amplification had poor prognosis.