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评估基因组分析在指导唾液腺癌临床试验治疗选择中的临床实用性。

Evaluation of the Clinical Utility of Genomic Profiling to Inform Selection of Clinical Trial Therapy in Salivary Gland Cancer.

作者信息

Rack Samuel, Feeney Laura, Hapuarachi Brindley, Adderley Helen, Woodhouse Laura, Betts Guy, Burghel George J, Harrington Kevin J, Metcalf Robert

机构信息

Department of Medical Oncology, The Christie Hospital NHS Foundation Trust, Manchester M20 4BX, UK.

The Northern Ireland Cancer Centre, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK.

出版信息

Cancers (Basel). 2022 Feb 23;14(5):1133. doi: 10.3390/cancers14051133.

Abstract

For most patients with salivary gland cancer, there are no effective standard systemic therapies. Although clinical trials of biomarker-led drug therapies have delivered significant recent advances, there remains a need to understand the clinical utility of genomic profiling of cancer as a means to match patients with recurrent or metastatic salivary gland cancer to clinical trial therapies. In total, 209 patients with salivary gland cancers were profiled with 24 gene (n = 209)) and >325 gene (n = 32) DNA-based next-generation sequencing panels. A retrospective systematic evaluation was performed to identify the frequency of available matched drug therapies within clinical trials based on the results. The matches were then stratified based upon the level of evidence supporting the drug−biomarker combination being investigated using the ESMO Scale for Clinical Actionability of Molecular Targets (ESCAT) to determine the strength of the clinical rationale for each gene−drug match identified. DNA-based next generation sequencing (NGS) analysis was successful in 175/209 (84%) patients with salivary gland cancer. Using the 24-gene NGS panel, actionable alterations were identified in 27% (48/175) patients. Alterations were most frequent in salivary duct carcinoma (88%) characterized by TP53 and/or PIK3CA mutations, with matched trials available for 63% (10/16). In ACC, biomarker-matched trials were available for 7% (8/115), and no genomic alterations were found in 96/115 (83%) of ACC patients. TP53 was the most frequently altered gene across all subtypes; however, there were no trials recruiting based on TP53 status. In 32 ACC patients with no genomic alterations using the 24-gene panel, a broader (>325 gene) panel identified alterations in 87% (27/32) of cases with biomarker-matched trials available in 40% (13/32) cases. This study identified that genomic profiling using focused (24-gene) NGS panels has potential utility in matching to trial therapies for most patients with non-ACC salivary gland cancer. For patients with ACC, broader genomic profiling has demonstrated added clinical utility. We describe the application of an approach to classification of levels of evidence which may be helpful to inform the clinician and patient decision making around the selection of clinical trial therapies.

摘要

对于大多数涎腺癌患者而言,目前尚无有效的标准全身治疗方法。尽管近期生物标志物导向的药物治疗临床试验取得了显著进展,但仍有必要了解癌症基因组分析的临床实用性,以此作为将复发或转移性涎腺癌患者与临床试验疗法进行匹配的一种手段。共有209例涎腺癌患者接受了24基因(n = 209)和>325基因(n = 32)的基于DNA的二代测序检测。基于检测结果,进行了一项回顾性系统评估,以确定临床试验中可用的匹配药物治疗的频率。然后根据支持所研究的药物-生物标志物组合的证据水平,使用分子靶点临床可操作性的ESMO量表(ESCAT)对匹配情况进行分层,以确定每个已识别的基因-药物匹配的临床依据强度。基于DNA的二代测序(NGS)分析在175/209(84%)例涎腺癌患者中成功完成。使用24基因NGS检测板,在27%(48/175)的患者中发现了可操作的改变。改变在以TP53和/或PIK3CA突变为特征的涎腺导管癌中最为常见(88%),有63%(10/16)的患者有匹配的试验。在腺样囊性癌(ACC)中,有生物标志物匹配试验的患者占7%(8/115),96/115(83%)的ACC患者未发现基因组改变。TP53是所有亚型中最常发生改变的基因;然而,没有基于TP53状态招募患者的试验。在使用24基因检测板未发现基因组改变的32例ACC患者中,更广泛的(>325基因)检测板在87%(27/32)的病例中发现了改变,其中40%(13/32)的病例有生物标志物匹配试验。本研究表明,使用聚焦(24基因)NGS检测板进行基因组分析对于大多数非ACC涎腺癌患者匹配试验疗法具有潜在实用性。对于ACC患者,更广泛的基因组分析已显示出额外的临床实用性。我们描述了一种证据水平分类方法的应用,这可能有助于为临床医生和患者在选择临床试验疗法时的决策提供参考。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/92bd/8909363/20e8c5600348/cancers-14-01133-g001.jpg

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