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首页> 外文期刊>Cellular Oncology: Analytical Cellular Pathology >Deletions ofN33,STK11andTP53Are Involved in the Development of Lymph Node Metastasis in Larynx and Pharynx Carcinomas
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Deletions ofN33,STK11andTP53Are Involved in the Development of Lymph Node Metastasis in Larynx and Pharynx Carcinomas

机译：N33，STK11和TP53的缺失与喉和咽癌的淋巴结转移发展有关。

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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 ofCDKN2A(9p21) andMLH1(3p22) and gains ofCCND1,EMS1(both at 11q13),RECQL4andPTP4A3(both at 8q24) were the most frequent aberrations in both larynx and pharynx carcinomas. Amplifications were detected atEMS1,CCND1andERBB2(17q21). A correlation between loss ofN33(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 ofN33,STK11(19p13) andTP53(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。本研究的目的是使用多重连接依赖探针扩增（MLPA）来搜索此类标记，MLPA是一种半定量PCR技术，用于检测基因拷贝数变化。方法：MLPA分析了37个基因，分别检测了34个喉头和22个喉头。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（8p22）的丢失与不良生存之间的相关性（p = 0.02）。 EMS1的增益与生存率具有相同的关系，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）缺失，后者在喉癌中尤为明显。喉和咽鳞状细胞癌。

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