CAJ | 학술논문

目的：探讨N-myc和间变性淋巴瘤激酶(ALK)基因拷贝数变化及ALK基因点突变等异常在神经母细胞瘤(NB)中的意义。方法回顾性分析83例NB患儿的临床病理特点，检测ALK和N-myc基因，根据NB患儿临床分期、组织学分类进行临床病理特征讨论和生存分析。结果共纳入83例NB患儿，以婴幼儿发病为主。NB中检测到N-myc基因增多和扩增，ALK基因异常表现为点突变和增多。17例NB患儿同时存在ALK和N-myc基因异常。年龄、临床分期和N-myc基因异常是影响NB预后的因子。结论对NB患儿进行N-myc和ALK基因检测，不仅能判断NB患儿的预后，还能为NB的ALK靶向治疗提供理论基础。
목적：탐토N-myc화간변성림파류격매(ALK)기인고패수변화급ALK기인점돌변등이상재신경모세포류(NB)중적의의。방법회고성분석83례NB환인적림상병리특점，검측ALK화N-myc기인，근거NB환인림상분기、조직학분류진행림상병리특정토론화생존분석。결과공납입83례NB환인，이영유인발병위주。NB중검측도N-myc기인증다화확증，ALK기인이상표현위점돌변화증다。17례NB환인동시존재ALK화N-myc기인이상。년령、림상분기화N-myc기인이상시영향NB예후적인자。결론대NB환인진행N-myc화ALK기인검측，불부능판단NB환인적예후，환능위NB적ALK파향치료제공이론기출。
ObjectivesTo retrospectively analyze the clinicopathological features of neuroblastoma (NB) and investigate the signiifcance of abnormality ofN-myc and anaplastic lymphoma kinase (ALK) gene copy number change as well asALKmu-tations in NB.Methods Eighty-three NB patients were collected and classiifed into different subgroups according to the clinical stage and histology. Fluorescence in situ hybridization (FISH) was performed to detect the abnormalities ofN-mycandALK genes. The extracted DNA was ampliifed by PCR and sequenced to investigate the point mutations of theALK gene. Follow-up data were collected and survival analysis was performed.ResultsFISH detection showed that the aberration ofN-mycgene copy number presented as gain and ampliifcation. The aberration ofALK gene presented as point mutation and gain. It was shown that 17 cases had the abnormality of bothN-myc andALK gene. Survival analysis showed that the prognostic factors included the clinical stage, age and abnormality ofN-myc genes.ConclusionDetection ofN-myc andALK abnormality in NB would be helpful for evaluating the prognosis and providing theoretical basis forALK target therapy.