Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Head Neck. 2013 Mar;35(3):454-63. doi: 10.1002/hed.23100. Epub 2012 Aug 21.
Scientific innovation has enabled whole exome capture and massively parallel sequencing of cancer genomes. In head and neck cancer, next-generation sequencing has granted us further understanding of the mutational spectrum of squamous cell carcinoma. As a result of these new technologies, frequently occurring mutations were identified in NOTCH1, a gene that had not previously been implicated in head and neck cancer. The current review describes the most common mutations in head and neck cancer: TP53, NOTCH1, HRAS, PIK3CA, and CDKN2A. Emphasis is placed on the involved cellular pathways, clinical correlations, and potential therapeutic interventions. Additionally, the implications of human papillomavirus on mutation patterns are discussed.
科学创新使全外显子捕获和癌症基因组的大规模平行测序成为可能。在头颈部癌症中,下一代测序使我们进一步了解了鳞状细胞癌的突变谱。由于这些新技术的出现,NOTCH1 基因中经常发生的突变被鉴定出来,而 NOTCH1 基因以前与头颈部癌症无关。目前的综述描述了头颈部癌症中最常见的突变:TP53、NOTCH1、HRAS、PIK3CA 和 CDKN2A。重点介绍了涉及的细胞途径、临床相关性和潜在的治疗干预措施。此外,还讨论了人乳头瘤病毒对突变模式的影响。