儿童神经母细胞源性肿瘤的形态及分子遗传学改变及临床意义

摘要

Purpose To summarize the histological,immunophenotypic feature and MYCN (MYC gene) amplification results of peripheral neuroblastic tumours in children,and to predict its biological behavior and prognosis.Methods The histology and immunophenotype of 100 cases of neuroblastoma (NB) and ganglioneuroblastoma (GNB) were retrospectively analysed,MYCN status was detected in 60 cases.Results Among The average age of 100 cases of GN and GNB was 2.7 years old,and that of males was more than that of females.NB could be divided into three subtypes:undifferentiated,poorly differentiated and differentiating.GNB could be divided into two subtypes:intermixed (iGNB) and nodular (nGNB).Immunohistochemical staining showed neuroblastoma cells were positive for NSE,NF,PGP9.5,Syn,CgA in varying degree.Schwann cells were positive for S-100 and GFAP.MYCN amplification was detected in 1 1.67％ of the cases,and no MYCN amplification was seen in iGNB patients.Conclusion The diagnosis of peripheral neuroblastic tumours is mainly based on histological morphology,special tests (immunohistochemistry,electron microscope and cytogenetics) can helpful for identifing undifferentiated neuroblastoma cells.The prognosis of neuroblastoma derived tumors is evaluated according to the age of patients,the classification and staging of tumors,and molecular genetic alterations.%目的 探讨儿童神经母细胞源性肿瘤的组织学特征、免疫表型及MYCN扩增特点,判断其生物学行为及预后.方法 分析100例神经母细胞瘤(neuroblastoma,NB)及节神经母细胞瘤(ganglioneuroblastoma,GNB)的组织学形态、免疫表型及60例MYCN扩增.结果 100例NB及GNB患儿,平均年龄2.7岁,男性多于女性;NB分为未分化型、差分化型、分化型;GNB分为混合型(iGNB)和结节型(nGNB).免疫表型:神经母细胞不同程度的表达NSE、NF、PGP9.5、Syn、CgA;Schwannian细胞表达S-100、GFAP.11.67％的患者伴MYCN扩增,iGNB无MYCN扩增.结论 神经母细胞源性肿瘤的诊断主要根据组织学形态,特殊检查(免疫组化、电镜和细胞遗传学)可以帮助鉴别未分化的母细胞成分.神经母细胞源性肿瘤的预后根据患者年龄、肿瘤的分型分期、分子遗传学改变等指标综合评估.