首页> 美国卫生研究院文献>Analytical Cellular Pathology : the Journal of the European Society for Analytical Cellular Pathology >Deletions of N33 STK11 and TP53 Are Involved in the Development of Lymph Node Metastasis in Larynx and Pharynx Carcinomas
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Deletions of N33 STK11 and TP53 Are Involved in the Development of Lymph Node Metastasis in Larynx and Pharynx Carcinomas

机译:N33STK11和TP53的缺失与喉和咽癌的淋巴结转移发展有关。

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摘要

Background: Lymph node metastasis is the mayor cause of mortality in patients with head and neck squamous cell carcinomas (45%). The genetic changes underlying metastasis are still largely unknown and genetic markers to predict lymph node positivity still need to be found. The aim of this study was to search such markers by using Multiplex Ligation-dependent Probe Amplification (MLPA), a semi-quantitative PCR technique to detect gene copy number alterations. Methods: Thirty-seven genes were analysed by MLPA in 34 larynx and 22 pharynx carcinomas. Results: Losses of CDKN2A (9p21) and MLH1 (3p22) and gains of CCND1, EMS1 (both at 11q13), RECQL4 and PTP4A3 (both at 8q24) were the most frequent aberrations in both larynx and pharynx carcinomas. Amplifications were detected at EMS1, CCND1 and ERBB2 (17q21). A correlation between loss of N33 (8p22) and poor survival was found (p=0.02). Gain of EMS1 had the same relation with survival but not significant (p=0.08). Lymph node positive tumors presented a specific pattern of genetic alterations, with losses of N33, STK11 (19p13) and TP53 (17p13), the latter especially in larynx tumors. Conclusion: We propose that these 3 genes might play a role in the development of metastasis in larynx and pharynx squamous cell carcinomas.
机译:背景:淋巴结转移是头颈部鳞状细胞癌患者(45%)的主要死因。转移的遗传学改变仍是未知之数,仍需要找到预测淋巴结阳性的遗传标记。这项研究的目的是通过使用多重连接依赖性探针扩增(MLPA)(一种检测基因拷贝数变化的半定量PCR技术)来搜索此类标记。方法:通过MLPA分析了34个喉癌和22个咽癌的37个基因。结果:在喉癌和咽癌中,CDKN2A(9p21)和MLH1(3p22)的丢失以及CCND1,EMS1(均为11q13),RECQL4和PTP4A3(均为8q24)的增益是最常见的畸变。在EMS1,CCND1和ERBB2(17q21)处检测到扩增。发现N33丢失(8p22)与不良生存之间的相关性(p = 0.02)。 EMS1的增益与存活率具有相同的关系,但并不显着(p = 0.08)。淋巴结阳性肿瘤表现出特定的遗传改变模式,其中N33, STK11 (19p13)和 TP53 (17p13)丢失,后者尤其在喉肿瘤中。 结论:我们认为这3个基因可能在喉和咽鳞状细胞癌的转移发展中起作用。

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