Liquid biopsy comprehensive genomic profiling of lung cancer in the Italian population: A real-world experience

Porta, Camilla; Pradelli, Lorenzo; Sicari, Emilia; Castellani, Silvia; Sivakumar, Smruthy; Sokol, Ethan; Montesion, Meagan; Wieland, Thomas; Rambichler, Johanna; Minari, Roberta; Tiseo, Marcello

doi:10.1016/j.lungcan.2023.107359

Cited by 2 publications

(1 citation statement)

References 56 publications

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“…Another study conducted on 152 Asian patients, analyzing circulating DNA from lung cancer patients, revealed that the most common alterations in their population were EGFR at 46.05%, ALK at 7.24%, KRAS at 6.58%, and PIK3CA at 6.58%, respectively ( 28 ). This contrasts with a study conducted on 229 European patients, in which the most common alterations were TP53 at 47.6%, DNMT3A at 33.2%, EGFR at 20.1%, and KRAS at 15.7% ( 29 ). In our series, TP53 was identified as a sole mutation in 10.3% of patients (13 individuals), while it was found in association with other co-mutations in an additional 51.1% of cases.…”

Section: Discussioncontrasting

confidence: 71%

Mutation profile in liquid biopsy tested by next generation sequencing in Mexican patients with non-small cell lung carcinoma and its impact on survival

Martínez-Herrera,

Sánchez Domínguez,

Juárez-Vignon Whaley

et al. 2024

J Thorac Dis

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Background Lung cancer represents a significant global health concern, often diagnosed in its advanced stages. The advent of massive DNA sequencing has revolutionized the landscape of cancer treatment by enabling the identification of target mutations and the development of tailored therapeutic approaches. Unfortunately, access to DNA sequencing technology remains limited in many developing countries. In this context, we emphasize the critical importance of integrating this advanced technology into healthcare systems in developing nations to improve treatment outcomes. Methods We conducted an analysis of electronic clinical records of patients with confirmed advanced non-small cell lung cancer (NSCLC) and a verified negative status for the epidermal growth factor receptor ( EGFR ) mutation. These patients underwent next-generation sequencing (NGS) for molecular analysis. We performed descriptive statistical analyses for each variable and conducted both univariate and multivariate statistical analyses to assess their impact on progression-free survival (PFS) and overall survival (OS). Additionally, we classified genetic mutations as actionable or non-actionable based on the European Society for Medical Oncology Scale of Clinical Actionability of Molecular Targets (ESCAT) guidelines. Results Our study included a total of 127 patients, revealing the presence of twenty-one distinct mutations. The most prevalent mutations were EGFR (18.9%) and Kirsten rat sarcoma viral oncogene homolog ( KRAS ) (15.7%). Notably, anaplastic lymphoma kinase ( ALK ) [hazard ratio (HR): 0.258, P<0.001], tumor mutation burden (TMB) (HR: 2.073, P=0.042) and brain magnetic resonance imaging (MRI) (HR: 0.470, P=0.032) demonstrated statistical significance in both the univariate and multivariate analyses with respect to PFS. In terms of OS, ALK (HR: 0.285, P<0.001) and EGFR (HR: 0.482, P=0.024) exhibited statistical significance in both analyses. Applying the ESCAT classification system, we identified actionable genomic variations (ESCAT level-1), including EGFR , ALK , breast cancer ( BRAF ) gene, c-ros oncogene 1 ( ROS1 ), and rearranged during transfection ( RET ) gene, in 32.3% of the patients. Conclusions Our findings from massive DNA sequencing underscore that 32.3% of patients who test negative for the EGFR mutation possess other targetable mutations, enabling them to receive personalized, targeted therapies at an earlier stage of their disease. Implementing massive DNA sequencing in developing countries is crucial to enhance survival rates among NSCLC patients and guide more effective treatment strategies.

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Section: Discussioncontrasting

confidence: 71%

Mutation profile in liquid biopsy tested by next generation sequencing in Mexican patients with non-small cell lung carcinoma and its impact on survival

Martínez-Herrera,

Sánchez Domínguez,

Juárez-Vignon Whaley

et al. 2024

J Thorac Dis

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Liquid and Tissue Biopsies for Lung Cancer: Algorithms and Perspectives

Hofman

2024

Cancers

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The targeted therapies and immunotherapies in thoracic oncology, particularly for NS-NSCLC, are associated with an increase in the number of predictive biomarkers to be assessed in routine clinical practice. These treatments are administered thanks to marketing authorization for use in daily practice or are evaluated during clinical trials. Since the molecular targets to be identified are more and more complex and numerous, it is now mandatory to use NGS. NGS can be developed from both tissue and fluid (mainly blood). The blood tests in oncology, so-called “liquid biopsies” (LB), are performed with plasmatic circulating free DNA (cf-DNA) and are complementary to the molecular testing performed with a TB. LB use in lung cancer is associated with international guidelines, but additional algorithms could be set up. However, even if useful for better care of patients, notably with advanced and metastatic NS-NSCLC, until now LB are not often integrated into daily practice, at least in Europe and notably in France. The purpose of this review is to describe the different opportunities and algorithms leading to the identification of the molecular signature of NS-NSCLC, using both tissue and liquid biopsies, and to introduce the principle limitations but also some perspectives in this field.

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Liquid biopsy comprehensive genomic profiling of lung cancer in the Italian population: A real-world experience

Cited by 2 publications

References 56 publications

Mutation profile in liquid biopsy tested by next generation sequencing in Mexican patients with non-small cell lung carcinoma and its impact on survival

Mutation profile in liquid biopsy tested by next generation sequencing in Mexican patients with non-small cell lung carcinoma and its impact on survival

Liquid and Tissue Biopsies for Lung Cancer: Algorithms and Perspectives

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