使用下一代测序的肺癌突变谱:马来西亚真实世界的临床诊断经验

P. Rajadurai, N. Yap, Saira Bahnu Mohamed Yousoof, Y. Cheah
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引用次数: 1

摘要

肺癌是马来西亚最常见的癌症之一,也是癌症相关死亡的主要原因。该分析旨在评估肺癌中可操作和常见突变的患病率,以及与EGFR变异经常发生的共突变。使用Subang Jaya医学中心实验室的下一代测序(NGS)面板对肺肿瘤样本进行突变谱分析。对来自马来西亚几家医疗机构的469份肺肿瘤样本进行了分析,其中84%为腺癌亚型。最常见的三个突变是EGFR(46.5%)、TP53(37.5%)和KRAS(14.3%)。在63.5%的患者样本中检测到具有批准的肺癌药物靶点的可操作突变。在EGFR突变患者中,44.5%的样本检测到外显子19缺失,38.5%的样本检测到p.L858R缺失。EGFR突变样本中最常见的共突变是TP53基因(38.1%)。自动化NGS平台的平均周转时间(TAT)为3个工作日。NGS检测可以提供关于突变情况和肺癌患者中常见或可操作突变的患病率的有价值的信息。这一现实世界的经验表明,检测到的可操作突变的百分比很高,并突出了NGS检测在临床诊断环境中的价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Mutational Profiling of Lung Cancer Using Next Generation Sequencing: A Malaysian Real-World Clinical Diagnostic Experience
Lung cancer is one of the most common cancers and a leading cause of cancer-related mortality in Malaysia. This analysis aimed to evaluate the prevalence of actionable and common mutations, as well as co-mutations frequently occurring with EGFR variants in lung cancer. Mutational profiling of lung tumour samples was performed using next generation sequencing (NGS) panels at the Subang Jaya Medical Centre laboratory. A total of 469 lung tumour samples referred from several medical facilities in Malaysia were analysed and 84% were of the adenocarcinoma subtype. The three most frequent mutations found were EGFR (46.5%), TP53 (37.5%) and KRAS (14.3%). Actionable mutations with approved drug targets for lung cancer were detected in 63.5% of patient samples. Among patients with EGFR mutations, deletions in exon 19 were detected in 44.5% and p.L858R in 38.5% of samples. The most common co-mutations for samples with EGFR mutations were found in the TP53 gene (38.1%). A median turnaround time (TAT) of 3 working days was achievable with an automated NGS platform. NGS testing can provide valuable information on the mutational landscape and the prevalence of common or actionable mutations present in lung cancer patients. This real-world experience demonstrates the high percentage of actionable mutations detected and highlights the value of NGS testing in a clinical diagnostic setting.
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