颅底良性脊索肿瘤恶变临床病理与分子遗传学特征分析  

Analysis of clinicopathological and molecular genetic features of malignant transformation of benign notochordal cell tumour in the skull base

作　　者：杜江[1] 崔云[1] 苏玉金[1] 刘朝霞[1] 徐作霖[1] 熊志霞 李桂林[1] DU Jiang;CUI Yun;SU Yu-jin;LIU Zhao-xia;XU Zuo-lin;XIONG Zhi-xia;LI Gui-lin(Department of Neuropathology,Beijing Neurosurgical Institute/Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China)

机构地区：[1]北京市神经外科研究所/首都医科大学附属北京天坛医院神经病理室,北京100070

出　　处：《临床与实验病理学杂志》2021年第1期39-43,共5页Chinese Journal of Clinical and Experimental Pathology

摘　　要：目的探讨良性脊索肿瘤(benign notochordal cell tumour,BNCT)恶变及特定的分子生物学指标在肿瘤发生、发展中的作用。方法回顾性分析1例颅底BNCT恶变的临床病理学、影像学及免疫表型特征,将组织学形态为BNCT的第1次手术标本及组织学形态为经典型脊索瘤的第3次手术标本分别进行OncoScan全基因组拷贝数分析。结果BNCT恶变后出现3号和9号染色体的部分缺失,可导致相应片段的相关基因缺失,如SETD2、BAP1、PBRM1、FHIT、MITF、CDKN2A、CDKN2B等。这些基因中有重要的抑癌基因,一些基因可维持基因组的稳定,促进DNA修复。结论3号和9号染色体的缺失可能是肿瘤恶变的关键片段,是脊索瘤发生的早期事件。Purpose To investigate the role of benign notochordal cell tumour(BNCT)malignant transformation and specific molecular biological markers in the tumorigenesis and development of BNCT.Methods The clinicopathological,imaging and immunophenotypic features of a case of malignant transformation of BNCT in the skull base were analyzed retrospectively.The first surgical specimen with histological morphology of BNCT and the third surgical specimen with histological morphology of classical chordoma were performed by OncoScan whole genome copy number analysis.Results The partial deletion of chromosome 3 and chromosome 9 was observed after malignant transformation of BCNT,which could lead to the deletion of relevant gene such as SETD2,BAP1,PBRM1,FHIT,MITF,CDKN2A,CDKN2B and so on.Among these genes,there were important tumor suppressor genes,some of which could maintain the genomic stability and promote DNA repair.Conclusion The deletion of chromosome 3 and 9 may be the key segment of tumor malignant transformation and the early event of chordoma.

关 键 词：良性脊索肿瘤 脊索瘤 OncoScan全基因组拷贝数分析 免疫组织化学 

分 类 号：R738.1[医药卫生—肿瘤]