头颈部鳞状细胞癌中人类表皮生长因子受体2（HER2/ERBB2）的基因组改变
Genomic alterations in human epidermal growth factor receptor 2 (HER2/ERBB2) in head and neck squamous cell carcinoma.
作者信息
Chung Christine H, Germain Alexis, Subramaniam Rathan M, Heilmann Andreas M, Fedorchak Kyle, Ali Siraj M, Miller Vincent A, Palermo Robert A, Fakhry Carole
机构信息
Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Department of Otolaryngology-Head and Neck Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
出版信息
Head Neck. 2017 Jan;39(1):E15-E19. doi: 10.1002/hed.24587. Epub 2016 Sep 21.
BACKGROUND
Despite recent advances, survival outcomes for those with metastatic or recurrent head and neck squamous cell carcinoma (HNSCC) have remained poor. Novel approaches should be investigated to improve outcomes.
METHODS
A retrospective chart review was performed of a patient who presented with a TNM classification III HNSCC of the oropharynx, positive for human papillomavirus (HPV) who had a complete response to a human epidermal growth factor receptor 2 (HER2)-targeted therapy. Amplification rates of HER2 in the HNSCC Cancer Genome Atlas Network (TCGA) dataset and the FoundationOne genomic profiling dataset were evaluated.
RESULTS
Comprehensive genomic profiling of the tumor obtained from the dermal metastasis identified amplification of HER2. Data from TCGA and FoundationOne showed that the frequency of HER2 alteration was not observed to vary significantly with HPV tumor status.
CONCLUSION
This case demonstrates the application of genomic profiling to guide treatments in a patient with HNSCC with advanced metastatic disease refractory to standard of care therapies. © 2016 Wiley Periodicals, Inc. Head Neck 39: E15-E19, 2017.
背景
尽管最近取得了进展，但转移性或复发性头颈部鳞状细胞癌（HNSCC）患者的生存结果仍然很差。应研究新的方法以改善治疗结果。
方法
对一名口咽TNM分类为III期的HNSCC患者进行回顾性病历审查，该患者人乳头瘤病毒（HPV）呈阳性，对人表皮生长因子受体2（HER2）靶向治疗有完全反应。评估了HNSCC癌症基因组图谱网络（TCGA）数据集和FoundationOne基因组分析数据集中HER2的扩增率。
结果
从皮肤转移灶获得的肿瘤综合基因组分析确定了HER2的扩增。来自TCGA和FoundationOne的数据显示，未观察到HER2改变的频率随HPV肿瘤状态有显著差异。
结论
本病例证明了基因组分析在指导一名患有晚期转移性疾病且对标准护理疗法难治的HNSCC患者治疗中的应用。©2016威利期刊公司。《头颈》39: E15 - E19, 2017。
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