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
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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CHANG Fangyuan, DU Xiaoling, DAI Hongji, REN Zhiwu, LIAO Zhichao, YANG Jilong. TBX2 gene mutation and the clinical significance of relatedprotein expressionin malignant 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
Citation: CHANG Fangyuan, DU Xiaoling, DAI Hongji, REN Zhiwu, LIAO Zhichao, YANG Jilong. TBX2 gene mutation and the clinical significance of relatedprotein expressionin malignant 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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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

TBX2 gene mutation and the clinical significance of relatedprotein expressionin malignant peripheral nerve sheath tumor

    摘要
  • 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。

     

    Abstract:
      Objective   To detect genomic aberrations and investigate the expression and clinical significance of TBX2,CHK2, and p53 i malignant peripheral nerve sheath tumor (MPNST) tissues.
      Methods   We collected 63 cases of MPNST tissue samples, which were remove by resection and were confirmed by pathology, from January 1991 to December 2011 in Department of Bone and Sofer Tissu Tumor, Tianjin Medical University Cancer Institute and Hospital. Twelve fresh tumor samples with qualified DNA quality were selecte 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 significantl correlated with AJCC (American Joint Committee on Cancer, AJCC) stage, recurrence, and metastasis (P＜0.05). TBX2 expressio 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, an p53 had significantly worse prognosis than patients with low expression levels of TBX2, CHK2, and p53(all P＜0.05). TBX2, CHK2, an p53 were independent prognostic factors of MPNST.
      Conclusion   TBX2 and its associated proteins may play important roles in MPNS development and progression. Detecting TBX2 expression may provide the theoretical basis for estimating the prognosis of patient with MPNST.

     

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