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基于二代测序对实体瘤基因组改变可干预情况的评估:“莫扎特”前瞻性观察研究

Next-generation sequencing-based evaluation of the actionable landscape of genomic alterations in solid tumors: the "MOZART" prospective observational study.

作者信息

Schettini Francesco, Sirico Marianna, Loddo Marco, Williams Gareth H, Hardisty Keeda-Marie, Scorer Paul, Thatcher Robert, Rivera Pablo, Milani Manuela, Strina Carla, Ferrero Giuseppina, Ungari Marco, Bottin Cristina, Zanconati Fabrizio, de Manzini Nicolò, Aguggini Sergio, Tancredi Richard, Fiorio Elena, Fioravanti Antonio, Scaltriti Maurizio, Generali Daniele

机构信息

Translational Genomics and Targeted Therapies in Solid Tumors Group, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), 08036 Barcelona, Spain.

Medical Oncology Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.

出版信息

Oncologist. 2025 Jan 17;30(1). doi: 10.1093/oncolo/oyae206.

Abstract

BACKGROUND

The identification of the most appropriate targeted therapies for advanced cancers is challenging. We performed a molecular profiling of metastatic solid tumors utilizing a comprehensive next-generation sequencing (NGS) assay to determine genomic alterations' type, frequency, actionability, and potential correlations with PD-L1 expression.

METHODS

A total of 304 adult patients with heavily pretreated metastatic cancers treated between January 2019 and March 2021 were recruited. The CLIA-/UKAS-accredit Oncofocus assay targeting 505 genes was used on newly obtained or archived biopsies. Chi-square, Kruskal-Wallis, and Wilcoxon rank-sum tests were used where appropriate. Results were significant for P < .05.

RESULTS

A total of 237 tumors (78%) harbored potentially actionable genomic alterations. Tumors were positive for PD-L1 in 68.9% of cases. The median number of mutant genes/tumor was 2.0 (IQR: 1.0-3.0). Only 34.5% were actionable ESCAT Tier I-II with different prevalence according to cancer type. The DNA damage repair (14%), the PI3K/AKT/mTOR (14%), and the RAS/RAF/MAPK (12%) pathways were the most frequently altered. No association was found among PD-L1, ESCAT, age, sex, and tumor mutational status. Overall, 62 patients underwent targeted treatment, with 37.1% obtaining objective responses. The same molecular-driven treatment for different cancer types could be associated with opposite clinical outcomes.

CONCLUSIONS

We highlight the clinical value of molecular profiling in metastatic solid tumors using comprehensive NGS-based panels to improve treatment algorithms in situations of uncertainty and facilitate clinical trial recruitment. However, interpreting genomic alterations in a tumor type-specific manner is critical.

摘要

背景

为晚期癌症确定最合适的靶向治疗方法具有挑战性。我们利用全面的二代测序(NGS)检测对转移性实体瘤进行了分子分析,以确定基因组改变的类型、频率、可操作性以及与程序性死亡受体配体1(PD-L1)表达的潜在相关性。

方法

招募了2019年1月至2021年3月期间接受过大量预处理的304例成年转移性癌症患者。对新获取或存档的活检样本使用经美国病理学家协会(CLIA)/英国认可服务(UKAS)认可的针对505个基因的Oncofocus检测。在适当情况下使用卡方检验、Kruskal-Wallis检验和Wilcoxon秩和检验。P < 0.05时结果具有显著性。

结果

共有237个肿瘤(78%)存在潜在可操作的基因组改变。68.9%的病例中肿瘤的PD-L1呈阳性。每个肿瘤的突变基因中位数为2.0(四分位间距:1.0 - 3.0)。只有34.5%的改变属于可操作的欧洲临床肿瘤学会(ESCAT)一级至二级,且根据癌症类型患病率不同。DNA损伤修复(14%)、磷脂酰肌醇-3-激酶/蛋白激酶B/哺乳动物雷帕霉素靶蛋白(PI3K/AKT/mTOR)(14%)和RAS/RAF/丝裂原活化蛋白激酶(RAS/RAF/MAPK)(12%)通路是最常发生改变的通路。未发现PD-L1、ESCAT、年龄、性别与肿瘤突变状态之间存在关联。总体而言,62例患者接受了靶向治疗,37.1%获得了客观缓解。针对不同癌症类型的相同分子驱动治疗可能与相反的临床结果相关。

结论

我们强调了使用基于NGS的全面检测对转移性实体瘤进行分子分析的临床价值,以在不确定情况下改进治疗方案并促进临床试验招募。然而,以肿瘤类型特异性方式解读基因组改变至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6aa/11783315/3989cb19435c/oyae206_fig1.jpg

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