印度肺癌患者的综合基因组分析

Comprehensive Genomic Profiling of Indian Patients With Lung Cancer.

作者信息

Sharma Shivani, Noronha Vanita, Yadav Arti, Mandhania Madhvi, Mohanty Sambit K, Katara Rahul, Aggarwal Aditi, Mohanty Sagar Samrat, Kumar Akash, Kumar Sanjeev, Kumar Vipin, Jaggi Kanika, Sharma Deepak Kumar, Kumar Sanjay, Apoorva Vaishalee, Pawar Akash, Menon Nandini, Shah Minit, Prabhash Kumar

机构信息

CORE Diagnostics, Gurugram, India.

Department of Medical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute (HBNI), Mumbai, India.

出版信息

JCO Glob Oncol. 2025 May;11:e2400587. doi: 10.1200/GO-24-00587. Epub 2025 May 5.

Abstract

PURPOSE

Genomic profiling has revolutionized non-small cell lung cancer (NSCLC) therapy, but molecular data on Indian patients with NSCLC are limited.

MATERIALS AND METHODS

We analyzed next-generation sequencing (NGS) data of 5,219 Indian patients with lung cancer, tested between May 2022 and August 2023 at CORE Diagnostics, a commercial laboratory in India. Using the PulmoCORE gene panel, we targeted 13 key genes (, , , , , , , , , , , , and ) for DNA and RNA sequencing. PD-L1 was tested by immunohistochemistry.

RESULTS

Median patient age was 62 years, and 62.5% were male. Common histologies included adenocarcinoma (57.1%), NSCLC not otherwise specified (19.3%), and squamous cell carcinoma (7%). Genomic alterations were detected in 80.6% patients according to the PulmoCORE panel; 64.2% patients had actionable alterations in at least one of the nine biomarkers with Food and Drug Administration-approved targeted therapies, that is, , , , , , , , , and . Common alterations included (37%), (34.1%), and (13.3%), (8.8%), and others below 5%. Alterations were more common in adenocarcinoma (76.4%) than in patients with squamous cell carcinoma (29.9%). Sex and age influenced mutation prevalence, with mutations more common in females and in males, while , , and fusions were prevalent in younger adults. Most genomic alterations were mutually exclusive, although 25% patients had co-occurring mutations. PD-L1 positivity was higher in males (28.3%) and more common in patients with squamous cell carcinoma (34.2%).

CONCLUSION

Broad molecular profiling is important to detect actionable alterations in Indian patients with lung cancer, for delivering optimal personalized precision medicine. Our study underscores the fact that NGS should be routinely done before planning therapy in Indian patients with advanced lung cancer.

摘要

目的

基因组分析彻底改变了非小细胞肺癌(NSCLC)的治疗方式,但关于印度NSCLC患者的分子数据有限。

材料与方法

我们分析了2022年5月至2023年8月期间在印度一家商业实验室CORE诊断公司检测的5219例印度肺癌患者的二代测序(NGS)数据。使用PulmoCORE基因检测板,我们针对13个关键基因(、、、、、、、、、、、和)进行DNA和RNA测序。通过免疫组织化学检测PD-L1。

结果

患者中位年龄为62岁,62.5%为男性。常见组织学类型包括腺癌(57.1%)、未另行指定的NSCLC(19.3%)和鳞状细胞癌(7%)。根据PulmoCORE检测板,80.6%的患者检测到基因组改变;64.2%的患者在九种生物标志物中的至少一种上有可操作的改变,这些生物标志物有美国食品药品监督管理局批准的靶向治疗药物,即、、、、、、、、和。常见改变包括(37%)、(34.1%)和(13.3%)、(8.8%),其他低于5%。腺癌(76.4%)中的改变比鳞状细胞癌患者(29.9%)更常见。性别和年龄影响突变发生率,女性中突变更常见,男性中更常见,而、和融合在年轻成年人中更普遍。大多数基因组改变是相互排斥的,尽管25%的患者有同时发生的突变。男性的PD-L1阳性率更高(28.3%),在鳞状细胞癌患者中更常见(34.2%)。

结论

广泛的分子分析对于检测印度肺癌患者的可操作改变很重要,以便提供最佳的个性化精准医疗。我们的研究强调了在为印度晚期肺癌患者制定治疗计划前应常规进行NGS检测这一事实。

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