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惡性外周神經(jīng)鞘膜瘤中TBX2基因突變及相關(guān)蛋白表達的臨床意義

發(fā)布時間:2018-05-06 01:36

  本文選題:惡性外周神經(jīng)鞘膜瘤 + TBX。 參考:《中國腫瘤臨床》2017年01期


【摘要】:目的:檢測惡性外周神經(jīng)鞘膜瘤基因組異常并探討TBX2、CHK2和p53在惡性外周神經(jīng)鞘膜瘤中的表達及其臨床意義。方法:收集天津醫(yī)科大學(xué)腫瘤醫(yī)院骨與軟組織腫瘤科1991年1月至2011年12月手術(shù)切除并經(jīng)病理證實的惡性外周神經(jīng)鞘膜瘤組織標(biāo)本63例。從中選取新鮮且DNA質(zhì)量合格的腫瘤樣本12例,采用第二代測序(next-generation sequencing,NGS)方法,檢測人惡性外周神經(jīng)鞘膜瘤組織樣本基因組異常情況。應(yīng)用免疫組織化學(xué)方法檢測63例惡性外周神經(jīng)鞘膜瘤組織樣本中TBX2、CHK2和p53的表達情況。結(jié)果:12例惡性外周神經(jīng)鞘膜瘤組織樣本中,有1例TBX2基因突變。63例惡性外周神經(jīng)鞘膜瘤組織樣本中,TBX2、CHK2和p53的高表達率分別為60.3%(38/63)、47.6%(30/63)及30.2%(19/63)。TBX2的高表達與AJCC分期、復(fù)發(fā)和轉(zhuǎn)移有顯著相關(guān)性(P0.05);TBX2的表達與CHK2的表達呈正相關(guān)(r=0.254,P=0.045),CHK2的表達與p53的表達呈正相關(guān)(r=0.343,P=0.006)。高表達TBX2、CHK2和p53的無病生存時間及總生存時間均顯著低于低表達組(P0.05),且TBX2、CHK2和p53均為惡性外周神經(jīng)鞘膜瘤的獨立預(yù)后因素。結(jié)論:TBX2及其相關(guān)蛋白的表達可能在惡性外周神經(jīng)鞘膜瘤發(fā)生發(fā)展過程中起重要作用,檢測其表達有望為MPNST預(yù)后提供理論依據(jù)。
[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.
【作者單位】: 天津醫(yī)科大學(xué)腫瘤醫(yī)院骨與軟組織腫瘤科 國家腫瘤臨床研究中心;天津市腫瘤防治重點實驗室;天津市惡性腫瘤臨床醫(yī)學(xué)研究中心;天津醫(yī)科大學(xué)診斷學(xué)教研室;天津醫(yī)科大學(xué)分子流行病室;
【基金】:國家自然科學(xué)基金項目(編號:81372872,81402215)資助~~
【分類號】:R739.4

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