| 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 |
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| 引用本文： | 常方圆,杜晓玲,戴弘季,任志午,廖志超,杨吉龙. 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[J]. 中国肿瘤临床, 2017, 44(1): 29-35. DOI: 10.3969/j.issn.1000-8179.2017.01.014 |
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| 作者姓名： | 常方圆 杜晓玲 戴弘季 任志午 廖志超 杨吉龙 |
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| 作者单位： | ①.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(天津市 300060) |
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| 基金项目： | 本文课题受国家自然科学基金项目(编号81372872，81402215)资助This work was supported by the National Natural Science Foundation of China (81372872 and 81402215) |
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| 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(P＜0.05) ；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(P＜0.05) ，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。
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| 关 键 词： | 恶性外周神经鞘膜瘤 TBX2 CHK2 预后 |
| 收稿时间： | 2016-09-01 |
TBX2 gene mutation and the clinical significance of related proteins expression in ma-lignant peripheral nerve sheath tumor |
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| Fangyuan CHANG,Xiaoling DU,Hongji DAI,Zhiwu REN,Zhichao LIAO,Jilong YANG. TBX2 gene mutation and the clinical significance of related proteins expression in ma-lignant peripheral nerve sheath tumor[J]. Chinese Journal of Clinical Oncology, 2017, 44(1): 29-35. DOI: 10.3969/j.issn.1000-8179.2017.01.014 |
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| Authors: | Fangyuan CHANG Xiaoling DU Hongji DAI Zhiwu REN Zhichao LIAO Jilong YANG |
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| Affiliation: | ①.Department of Bone and Soft Tissue Tumor, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Cente for Cancer, Tianjin 300060, China; Key Laboratory of Cancer Prevention and Therapy, Tianjin 300060, China; Tianjin Clinical Researc Center for Cancer, Tianjin 300060, China②.Department of Diagnostics, Tianjin Medical University, Tianjin 300061, China③.Departmen of Epidemiology and Biostatistics |
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| Abstract: | Objective:To detect genomic aberrations and investigate the expression and clinical significance of TBX2,CHK2, and p53 in malignant peripheral nerve sheath tumor (MPNST) tissues. Methods:We collected 63 cases of MPNST tissue samples, which were re-moved by resection and were confirmed by pathology, from January 1991 to December 2011 in Department of Bone and Sofer Tissue Tumor, Tianjin Medical University Cancer Institute and Hospital. Twelve fresh tumor samples with qualified DNA quality were selected from the above 63 cases of tissue samples. Genome abnormalities of 12 MPNST tissues were detected by next-generation sequencing. The protein expression levels of TBX2, CHK2, and p53 in 63 MPNST tissue samples were assessed by immunohistochemistry staining. Results:One case of TBX2 gene mutation was observed out of the 12 MPNST tissue samples. In 63 MPNST tissue samples, the protein expression rates of TBX2, CHK2, and p53 were 60.3%(38/63), 47.6%(30/63), and 30.2%(19/63), respectively. TBX2 expression was sig-nificantly correlated with AJCC (American Joint Committee on Cancer, AJCC) stage, recurrence, and metastasis (P<0.05). TBX2 expres-sion was directly correlated with that of CHK2 (r=0.254, P=0.045), and CHK2 expression was directly correlated with that of p53 (r=0.343, P=0.006). In terms of the disease-free survival and overall survival time, patients with high expression levels of TBX2, CHK2, and p53 had significantly worse prognosis than patients with low expression levels of TBX2, CHK2, and p53(all P<0.05). TBX2, CHK2, and p53 were independent prognostic factors of MPNST. Conclusion:TBX2 and its associated proteins may play important roles in MPNST development and progression. Detecting TBX2 expression may provide the theoretical basis for estimating the prognosis of patients with MPNST. |
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| Keywords: | malignant peripheral nerve sheath tumor TBX2 CHK2 prognosis |
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