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头颈鳞状细胞癌的基因组学与精准医学进展

Genomics and advances towards precision medicine for head and neck squamous cell carcinoma.

作者信息

Van Waes Carter, Musbahi Omar

机构信息

Head and Neck Surgery Branch National Institute on Deafness and Other Communication Disorders Bethesda Maryland U.S.A.

出版信息

Laryngoscope Investig Otolaryngol. 2017 Aug 22;2(5):310-319. doi: 10.1002/lio2.86. eCollection 2017 Oct.

Abstract

OBJECTIVE

To provide a review of emerging knowledge from genomics and related basic science, preclinical, and clinical precision medicine studies in head and neck squamous cell carcinoma (HNSCC).

DATA SOURCES

The Cancer Genome Atlas Network (TCGA) publications, PubMed-based literature review, and ClinicalTrials.gov.

REVIEW METHODS

TCGA publications, PubMed, and ClinicalTrials.gov were queried for genomics and related basic science, preclinical, and developmental clinical precision medicine studies in HNSCC.

RESULTS

TCGA reported comprehensive genomic analyses of 279 HNSCC, defining the landscape and frequency of chromosomal copy number alterations, mutations, and expressed genes that contribute to pathogenesis, prognosis, and resistance to therapy. This provides a road map for basic science and preclinical studies to identify key pathways in cancer and cells of the tumor microenvironment affected by these alterations, and candidate targets for new small molecule and biologic therapies.

CONCLUSION

Recurrent chromosomal abnormalities, mutations, and expression of genes affecting HNSCC subsets are associated with differences in prognosis, and define molecules, pathways, and deregulated immune responses as candidates for therapy. Activity of molecularly targeted agents appears to be enhanced by rational combinations of these agents and standard therapies targeting the complex alterations that affect multiple pathways and mechanisms in HNSCC.

LEVEL OF EVIDENCE

NA.

摘要

目的

综述头颈部鳞状细胞癌(HNSCC)基因组学及相关基础科学、临床前和临床精准医学研究的新知识。

数据来源

癌症基因组图谱网络(TCGA)出版物、基于PubMed的文献综述以及ClinicalTrials.gov。

综述方法

查询TCGA出版物、PubMed和ClinicalTrials.gov中关于HNSCC的基因组学及相关基础科学、临床前和临床精准医学研究。

结果

TCGA报告了对279例HNSCC的全面基因组分析,确定了染色体拷贝数改变、突变以及有助于发病机制、预后和治疗抗性的表达基因的情况和频率。这为基础科学和临床前研究提供了路线图,以识别癌症中受这些改变影响的关键途径以及肿瘤微环境中的细胞,以及新的小分子和生物疗法的候选靶点。

结论

影响HNSCC亚组的复发性染色体异常、突变和基因表达与预后差异相关,并确定分子、途径和失调的免疫反应作为治疗候选对象。通过将这些药物与针对影响HNSCC多种途径和机制的复杂改变的标准疗法进行合理组合,分子靶向药物的活性似乎会增强。

证据水平

无。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a363/5655563/f82b76e08890/LIO2-2-310-g001.jpg

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