Promoter Hypermethylation of Tumor-Associated Genes in Head and Neck Cancer

基因转录失活的一个重要途径是启动子区CpG岛的超甲基化。据报道，一些肿瘤抑制基因在头颈癌中存在启动子超甲基化。我们研究了42例原发性头颈癌中4个基因的DNA超甲基化。我们对p16、RAR-β、RASSF1A和Fhit基因进行了甲基化特异性PCR检测。43%的患者在p16位点检测到高甲基化，40%的患者在RAR-β位点检测到高甲基化，12%的患者在RASSF1A位点检测到高甲基化，Fhit位点在所有病例中均未检测到高甲基化。42例病例中有26例（62%）检测到至少一个基因的高甲基化。甲基化之间没有明显的相关性。病情及临床病理表现或预后。几种肿瘤相关基因的高甲基化在头颈癌的肿瘤发生中起重要作用。我们讨论临床意义及其作为筛查和随访工具的应用。

An important pathway of gene transcriptional inactivation is hypermethylation at the CpG islands of promoter regions. Some tumor suppressor genes have been reported to harbor promoter hypermethylation in head and neck cancer. We studied DNA hypermethylation of 4 genes in 42 cases of primary head and neck cancer. We applied methylation-specific PCR for p16, RAR-β, RASSF1A, and Fhit genes. Hypermethylation was detected at p16 in 43%, at RAR-β in 40%, at RASSF1A in 12%, and at Fhit in none of the cases. Hypermethylation of at least one gene was detected in 26 (62%) of the 42 cases. No significant correlation was seen between methylation. status and clinicopathological findings or prognosis.Hypermethylation of several tumor-associated genes plays an important role in tumorigenesis of head and neck cancer. We discuss clinical implications and their application as a screening and follow-up tools.