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基于综合基因组分析的新一代测序技术在发展中国家改善癌症治疗中的应用。

Application of Comprehensive Genomic Profiling-Based Next-Generation Sequencing Assay to Improve Cancer Care in a Developing Country.

机构信息

Clinical Oncology Department, Hospital Universitario Mayor de Mederi, Bogotá, Colombia.

Hematology and Oncology Department, Clínica de Occidente, Cali, Colombia.

出版信息

Cancer Control. 2023 Jan-Dec;30:10732748231175256. doi: 10.1177/10732748231175256.

Abstract

PURPOSE

Identifying actionable oncogenic mutations have changed the therapeutic landscape in different types of tumors. This study investigated the utility of comprehensive genomic profiling (CGP), a hybrid capture-based next-generation sequencing (NGS) assay, in clinical practice in a developing country.

METHODS

In this retrospective cohort study, CGP was performed on clinical samples from patients with different solid tumors recruited between December 2016 and November 2020, using hybrid capture-based genomic profiling, at the individual treating physicians' request in the clinical care for therapy decisions. Kaplan-Meier survival curves were estimated to characterize the time-to-event variables.

RESULTS

Patients median age was 61 years (range: 14-87 years), and 64.7% were female. The most common histological diagnosis was lung primary tumors, with 90 patients corresponding to 52.9% of the samples (95% CI 45.4-60.4%). Actionable mutations with FDA-approved medications for specific alterations correspondent to tumoral histology were identified in 58 cases (46.4%), whereas other alterations were detected in 47 different samples (37.6%). The median overall survival was 15.5 months (95% CI 11.7 months-NR). Patients who were subjected to genomic evaluation at diagnosis reached a median overall survival of 18.3 months (95% CI 14.9 months-NR) compared to 14.1 months (95% CI 11.1 months-NR) in patients who obtained genomic evaluation after tumor progression and during standard treatment ( = .7).

CONCLUSION

CGP of different types of tumors identifies clinically relevant genomic alterations that have benefited from targeted therapy and improve cancer care in a developing country to guide personalized treatment to beneficial outcomes of cancer patients.

摘要

目的

鉴定有治疗作用的致癌突变改变了不同类型肿瘤的治疗格局。本研究调查了综合基因组分析(CGP)在发展中国家临床实践中的应用,CGP 是一种基于杂交捕获的下一代测序(NGS)检测方法。

方法

在这项回顾性队列研究中,根据每位治疗医师在治疗决策的临床护理中请求,对 2016 年 12 月至 2020 年 11 月间招募的不同实体瘤患者的临床样本进行 CGP,采用基于杂交捕获的基因组分析。使用 Kaplan-Meier 生存曲线来描述时间事件变量。

结果

患者中位年龄为 61 岁(范围:14-87 岁),64.7%为女性。最常见的组织学诊断是肺部原发性肿瘤,其中 90 例患者(95%置信区间 45.4-60.4%)占样本的 52.9%。根据肿瘤组织学,对 58 例患者(46.4%)鉴定出了具有美国食品和药物管理局批准的针对特定改变药物的治疗作用的突变,而在 47 个不同样本(37.6%)中检测到了其他改变。中位总生存期为 15.5 个月(95%置信区间 11.7 个月-NR)。在诊断时接受基因组评估的患者中位总生存期为 18.3 个月(95%置信区间 14.9 个月-NR),而在肿瘤进展后且在标准治疗期间获得基因组评估的患者中位总生存期为 14.1 个月(95%置信区间 11.1 个月-NR)( =.7)。

结论

不同类型肿瘤的 CGP 可识别出受益于靶向治疗的临床相关基因组改变,从而改善发展中国家的癌症治疗,指导个性化治疗,使癌症患者获得有益的治疗效果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5695/10164853/2e4421dca139/10.1177_10732748231175256-fig1.jpg

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