Comprehensive Genomic Profiling in Advanced Non-Small Cell Lung Cancer: A Real-World Cohort Study in Finland

IF 3.1 2区医学 Q2 ONCOLOGY

Cancer Medicine Pub Date : 2025-09-28 DOI:10.1002/cam4.71250

Kirsi Hormalainen, Kaisa Marttila, Matti Nykter, Toomas Uibu, Jarkko Ahvonen, Vidal Fey, Mauri Keinänen, Maarit Bärlund, Arja Jukkola

{"title":"Comprehensive Genomic Profiling in Advanced Non-Small Cell Lung Cancer: A Real-World Cohort Study in Finland","authors":"Kirsi Hormalainen, Kaisa Marttila, Matti Nykter, Toomas Uibu, Jarkko Ahvonen, Vidal Fey, Mauri Keinänen, Maarit Bärlund, Arja Jukkola","doi":"10.1002/cam4.71250","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>Non-small cell lung cancer (NSCLC) is a disease with a low survival rate and poor prognosis. Targeted therapies have improved treatment outcomes as driver mutations have been identified, especially in adenocarcinomas. Comprehensive genomic profiling (CGP) provides insights into the genetic mutation profile of cancer and helps identify actionable mutations. The mutational landscape of cancer varies based on the patient's ethnic background, and there is limited information on the genetic profile of NSCLC within the Finnish population.</p>\n </section>\n \n <section>\n \n <h3> Material and Methods</h3>\n \n <p>We analysed the genetic mutational profile of 96 advanced NSCLCs that underwent CGP between November 2021 and March 2023 at Tampere University Hospital. Additionally, we compared the genomic alterations in our cohort with those in the international datasets.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>Clinically actionable alterations associated with a targeted therapy were identified in 45% of patients, including 63% of never-smokers and 41% of ever-smokers. The most common actionable alteration was KRAS G12C (18%), followed by EGFR alterations (14%). However, only 33% of the patients with an actionable alteration received targeted therapy. The median tumour mutational burden (TMB) was 5, with 31% of patients exhibiting a TMB greater than 10.</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>CGP affects the treatment strategies for NSCLC. Nearly half of our entire cohort had a genetic alteration eligible for approved targeted therapies. Besides these findings, CGP provides additional data to assess treatment decisions and outcomes, including co-occurring genetic alterations and TMB. In real-world clinical practice, the practical application of this information can be restricted by the varying unavailability of optimal treatments.</p>\n </section>\n </div>","PeriodicalId":139,"journal":{"name":"Cancer Medicine","volume":"14 19","pages":""},"PeriodicalIF":3.1000,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476845/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cancer Medicine","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/cam4.71250","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ONCOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Background

Non-small cell lung cancer (NSCLC) is a disease with a low survival rate and poor prognosis. Targeted therapies have improved treatment outcomes as driver mutations have been identified, especially in adenocarcinomas. Comprehensive genomic profiling (CGP) provides insights into the genetic mutation profile of cancer and helps identify actionable mutations. The mutational landscape of cancer varies based on the patient's ethnic background, and there is limited information on the genetic profile of NSCLC within the Finnish population.

Material and Methods

We analysed the genetic mutational profile of 96 advanced NSCLCs that underwent CGP between November 2021 and March 2023 at Tampere University Hospital. Additionally, we compared the genomic alterations in our cohort with those in the international datasets.

Results

Clinically actionable alterations associated with a targeted therapy were identified in 45% of patients, including 63% of never-smokers and 41% of ever-smokers. The most common actionable alteration was KRAS G12C (18%), followed by EGFR alterations (14%). However, only 33% of the patients with an actionable alteration received targeted therapy. The median tumour mutational burden (TMB) was 5, with 31% of patients exhibiting a TMB greater than 10.

Conclusions

CGP affects the treatment strategies for NSCLC. Nearly half of our entire cohort had a genetic alteration eligible for approved targeted therapies. Besides these findings, CGP provides additional data to assess treatment decisions and outcomes, including co-occurring genetic alterations and TMB. In real-world clinical practice, the practical application of this information can be restricted by the varying unavailability of optimal treatments.

Abstract Image

查看原文本刊更多论文

晚期非小细胞肺癌的全面基因组分析：芬兰的一项真实世界队列研究。

背景：非小细胞肺癌（NSCLC）是一种生存率低、预后差的疾病。随着驱动突变的发现，靶向治疗已经改善了治疗效果，尤其是在腺癌中。综合基因组谱（CGP）提供了对癌症基因突变谱的见解，并有助于识别可操作的突变。癌症的突变景观因患者的种族背景而异，芬兰人群中NSCLC的遗传谱信息有限。材料和方法：我们分析了2021年11月至2023年3月期间在坦佩雷大学医院接受CGP的96例晚期非小细胞肺癌的基因突变谱。此外，我们将我们的队列中的基因组变化与国际数据集中的基因组变化进行了比较。结果：在45%的患者中发现了与靶向治疗相关的临床可操作的改变，其中包括63%的不吸烟者和41%的吸烟者。最常见的可操作改变是KRAS G12C(18%)，其次是EGFR改变（14%）。然而，只有33%的患者接受了靶向治疗。中位肿瘤突变负荷（TMB）为5,31%的患者TMB大于10。结论：CGP影响非小细胞肺癌的治疗策略。我们整个队列中近一半的人有基因改变，符合批准的靶向治疗条件。除了这些发现，CGP还提供了额外的数据来评估治疗决策和结果，包括共同发生的遗传改变和TMB。在现实世界的临床实践中，这些信息的实际应用可能会受到各种最佳治疗方法的限制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Cancer Medicine ONCOLOGY-

CiteScore

5.50

自引率

2.50%

发文量

907

审稿时长

19 weeks

期刊介绍： Cancer Medicine is a peer-reviewed, open access, interdisciplinary journal providing rapid publication of research from global biomedical researchers across the cancer sciences. The journal will consider submissions from all oncologic specialties, including, but not limited to, the following areas: Clinical Cancer Research Translational research ∙ clinical trials ∙ chemotherapy ∙ radiation therapy ∙ surgical therapy ∙ clinical observations ∙ clinical guidelines ∙ genetic consultation ∙ ethical considerations Cancer Biology: Molecular biology ∙ cellular biology ∙ molecular genetics ∙ genomics ∙ immunology ∙ epigenetics ∙ metabolic studies ∙ proteomics ∙ cytopathology ∙ carcinogenesis ∙ drug discovery and delivery. Cancer Prevention: Behavioral science ∙ psychosocial studies ∙ screening ∙ nutrition ∙ epidemiology and prevention ∙ community outreach. Bioinformatics: Gene expressions profiles ∙ gene regulation networks ∙ genome bioinformatics ∙ pathwayanalysis ∙ prognostic biomarkers. Cancer Medicine publishes original research articles, systematic reviews, meta-analyses, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented in the paper.