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肺腺癌的全外显子测序、拷贝数分析和基因表达谱相结合的分子特征分析。

Molecular charcterization of lung adenocarcinoma combining whole exome sequencing, copy number analysis and gene expression profiling.

机构信息

Department of Oncology, Istituto Superiore di Sanità, Rome, Italy.

出版信息

Expert Rev Mol Diagn. 2022 Jan;22(1):77-100. doi: 10.1080/14737159.2022.2017774. Epub 2021 Dec 22.

Abstract

INTRODUCTION

Lung cancer is the leading cause of cancer mortality worldwide; lung adenocarcinoma (LUAD) corresponds to about 40% of lung cancers. LUAD is a genetically heterogeneous disease and the definition of this heterogeneity is of fundamental importance for prognosis and treatment.

AREAS COVERED

Based on primary literature, this review provides an updated analysis of multiomics studies based on the study of mutation profiling, copy number alterations and gene expression allowing for definition of molecular subgroups, prognostic factors based on molecular biomarkers, and identification of therapeutic targets. The authors sum up by providing the reader with their expert opinion on the potentialities of multiomics analysis of LUADs.

EXPERT OPINION

A detailed and comprehensive study of the co-occurring genetic abnormalities characterizing different LUAD subsets represents a fundamental tool for a better understanding of the disease heterogeneity and for the identification of subgroups of patients responding or resistant to targeted treatments and for the discovery of new therapeutic targets. It is expected that a comprehensive characterization of LUADs may provide a fundamental contribution to improve the survival of LUAD patients.

摘要

简介

肺癌是全球癌症死亡的主要原因;肺腺癌(LUAD)约占肺癌的 40%。LUAD 是一种遗传异质性疾病,这种异质性的定义对预后和治疗至关重要。

涵盖领域

基于主要文献,本综述通过对突变分析、拷贝数改变和基因表达的多组学研究进行了更新分析,从而能够定义分子亚群、基于分子生物标志物的预后因素以及鉴定治疗靶点。作者通过提供他们对 LUAD 多组学分析的潜力的专家意见,为读者做了总结。

专家意见

详细而全面地研究不同 LUAD 亚群的共存遗传异常是更好地理解疾病异质性、识别对靶向治疗有反应或耐药的患者亚群以及发现新的治疗靶点的重要工具。预计 LUAD 的全面特征分析可能会为改善 LUAD 患者的生存率做出重要贡献。

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