{"title":"全外显子组测序在区分原发性和继发性肺癌中的作用","authors":"Natalie I Vokes, Jianjun Zhang","doi":"10.2147/LCTT.S272518","DOIUrl":null,"url":null,"abstract":"<p><p>Non-small cell lung cancer (NSCLC) that presents with multiple lung tumors (MLTs) poses a challenge to accurate staging and prognosis. MLTs that arise as clonally related secondary metastases from a common primary are higher stage and often require adjuvant chemotherapy or may in fact be incurable stage IV lesions. Conversely, MLTs that represent distinct primaries have a better prognosis and may be overtreated if inappropriately classified as related secondaries. Historically, pathologic and radiographic criteria were used to distinguish between primary and secondary MLTs; however, the advent of genomic profiling has demonstrated limitations to these historic classification systems. In this review, we discuss the use of molecular profiling to distinguish between primary and secondary lung cancers, with a focus on the insights gleaned from whole exome sequencing (WES) analyses. While WES is not yet feasible in routine clinical practice, WES studies have helped elucidate the clonal relationship between primary and secondary lung cancers and provide important context for the application of targeted sequencing panel-based analyses.</p>","PeriodicalId":18066,"journal":{"name":"Lung Cancer: Targets and Therapy","volume":null,"pages":null},"PeriodicalIF":5.1000,"publicationDate":"2021-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ca/0d/lctt-12-139.PMC8648100.pdf","citationCount":"0","resultStr":"{\"title\":\"The Role of Whole Exome Sequencing in Distinguishing Primary and Secondary Lung Cancers.\",\"authors\":\"Natalie I Vokes, Jianjun Zhang\",\"doi\":\"10.2147/LCTT.S272518\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Non-small cell lung cancer (NSCLC) that presents with multiple lung tumors (MLTs) poses a challenge to accurate staging and prognosis. MLTs that arise as clonally related secondary metastases from a common primary are higher stage and often require adjuvant chemotherapy or may in fact be incurable stage IV lesions. Conversely, MLTs that represent distinct primaries have a better prognosis and may be overtreated if inappropriately classified as related secondaries. Historically, pathologic and radiographic criteria were used to distinguish between primary and secondary MLTs; however, the advent of genomic profiling has demonstrated limitations to these historic classification systems. In this review, we discuss the use of molecular profiling to distinguish between primary and secondary lung cancers, with a focus on the insights gleaned from whole exome sequencing (WES) analyses. While WES is not yet feasible in routine clinical practice, WES studies have helped elucidate the clonal relationship between primary and secondary lung cancers and provide important context for the application of targeted sequencing panel-based analyses.</p>\",\"PeriodicalId\":18066,\"journal\":{\"name\":\"Lung Cancer: Targets and Therapy\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":5.1000,\"publicationDate\":\"2021-12-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ca/0d/lctt-12-139.PMC8648100.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Lung Cancer: Targets and Therapy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2147/LCTT.S272518\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2021/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q1\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Lung Cancer: Targets and Therapy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/LCTT.S272518","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/1/1 0:00:00","PubModel":"eCollection","JCR":"Q1","JCRName":"ONCOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
非小细胞肺癌(NSCLC)伴有多发性肺肿瘤(MLT),给准确分期和预后带来了挑战。从一个共同的原发灶继发转移而来的克隆相关的多发性肺肿瘤分期较高,通常需要辅助化疗,或实际上可能是无法治愈的 IV 期病变。相反,代表不同原发灶的 MLT 预后较好,如果被不恰当地归类为相关的继发灶,则可能会过度治疗。历史上,病理学和放射学标准被用于区分原发性和继发性 MLT;然而,基因组分析的出现表明了这些历史性分类系统的局限性。在这篇综述中,我们将讨论如何利用分子图谱来区分原发性和继发性肺癌,重点是全外显子组测序(WES)分析所获得的启示。虽然全外显子组测序在常规临床实践中还不可行,但全外显子组测序研究有助于阐明原发性和继发性肺癌之间的克隆关系,并为基于靶向测序面板分析的应用提供了重要的背景。
The Role of Whole Exome Sequencing in Distinguishing Primary and Secondary Lung Cancers.
Non-small cell lung cancer (NSCLC) that presents with multiple lung tumors (MLTs) poses a challenge to accurate staging and prognosis. MLTs that arise as clonally related secondary metastases from a common primary are higher stage and often require adjuvant chemotherapy or may in fact be incurable stage IV lesions. Conversely, MLTs that represent distinct primaries have a better prognosis and may be overtreated if inappropriately classified as related secondaries. Historically, pathologic and radiographic criteria were used to distinguish between primary and secondary MLTs; however, the advent of genomic profiling has demonstrated limitations to these historic classification systems. In this review, we discuss the use of molecular profiling to distinguish between primary and secondary lung cancers, with a focus on the insights gleaned from whole exome sequencing (WES) analyses. While WES is not yet feasible in routine clinical practice, WES studies have helped elucidate the clonal relationship between primary and secondary lung cancers and provide important context for the application of targeted sequencing panel-based analyses.