恶性外周神经鞘膜瘤中TBX2基因突变及相关蛋白表达的临床意义

发布时间：2018-05-06 01:36

本文选题：恶性外周神经鞘膜瘤 + TBX　；参考：《中国肿瘤临床》2017年01期

【摘要】：目的:检测恶性外周神经鞘膜瘤基因组异常并探讨TBX2、CHK2和p53在恶性外周神经鞘膜瘤中的表达及其临床意义。方法:收集天津医科大学肿瘤医院骨与软组织肿瘤科1991年1月至2011年12月手术切除并经病理证实的恶性外周神经鞘膜瘤组织标本63例。从中选取新鲜且DNA质量合格的肿瘤样本12例,采用第二代测序(next-generation sequencing,NGS)方法,检测人恶性外周神经鞘膜瘤组织样本基因组异常情况。应用免疫组织化学方法检测63例恶性外周神经鞘膜瘤组织样本中TBX2、CHK2和p53的表达情况。结果:12例恶性外周神经鞘膜瘤组织样本中,有1例TBX2基因突变。63例恶性外周神经鞘膜瘤组织样本中,TBX2、CHK2和p53的高表达率分别为60.3%(38/63)、47.6%(30/63)及30.2%(19/63)。TBX2的高表达与AJCC分期、复发和转移有显著相关性(P0.05);TBX2的表达与CHK2的表达呈正相关(r=0.254,P=0.045),CHK2的表达与p53的表达呈正相关(r=0.343,P=0.006)。高表达TBX2、CHK2和p53的无病生存时间及总生存时间均显著低于低表达组(P0.05),且TBX2、CHK2和p53均为恶性外周神经鞘膜瘤的独立预后因素。结论:TBX2及其相关蛋白的表达可能在恶性外周神经鞘膜瘤发生发展过程中起重要作用,检测其表达有望为MPNST预后提供理论依据。
[Abstract]:Objective: to detect the genomic abnormality of malignant peripheral nerve sheath tumor and to investigate the expression and clinical significance of TBX2CHK2 and p53 in malignant peripheral nerve sheath tumor. Methods: from January 1991 to December 2011, 63 specimens of malignant peripheral nerve sheath tumor were collected from the Department of Bone and soft tissue Oncology, Cancer Hospital of Tianjin Medical University. The genomic abnormalities of human malignant peripheral nerve sheath tumor tissue samples were detected by the second generation next-generation sequencing method. The expression of TBX2chK2 and p53 in 63 cases of malignant peripheral nerve sheath tumor was detected by immunohistochemical method. Results among 12 cases of malignant peripheral nerve sheath tumor, 1 case had TBX2 gene mutation. 63 cases of malignant peripheral nerve sheath tumor had high expression rate of TBX2 CHK2 and p53. The high expression rate of TBX2 CHK2 and p53 were 60.33% and 47.66.63%, respectively, and the high expression of 30.2%(19/63).TBX2 and AJCC stage. There was a significant correlation between the expression of TBX2 and the expression of CHK2. There was a positive correlation between the expression of TBX2 and the expression of p53. The disease-free survival time and total survival time of high expression of TBX2, CHK2 and p53 were significantly lower than those of low expression group (P 0.05), and TBX2 + CHK2 and p53 were independent prognostic factors of malignant peripheral nerve sheath tumor. Conclusion the expression of TBX2 and its related proteins may play an important role in the occurrence and development of malignant peripheral nerve sheath tumor. The detection of the expression of TBX2 may provide a theoretical basis for the prognosis of MPNST.
【作者单位】：天津医科大学肿瘤医院骨与软组织肿瘤科国家肿瘤临床研究中心;天津市肿瘤防治重点实验室;天津市恶性肿瘤临床医学研究中心;天津医科大学诊断学教研室;天津医科大学分子流行病室;
【基金】：国家自然科学基金项目(编号:81372872,81402215)资助~~
【分类号】：R739.4

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