Molecular testing in stage I–III non-small cell lung cancer: Approaches and challenges

“…Therefore, their only treatment options were targeted therapy or immunotherapy. In this way, liquid biopsy, as a noninvasive, safe, and easy procedure, has the potential to improve the currently used strategies for lung cancer diagnosis and treatment, either alone or as complementary data for imaging findings in this type of patient [ 32 ]. Nevertheless, further studies in this direction are needed to make the use of liquid biopsy in this setting a reality.…”

Section: Discussionmentioning

confidence: 99%

Utility of ctDNA Liquid Biopsies from Cancer Patients: An Institutional Study of 285 ctDNA Samples

Gumà

Peña

Riu

et al. 2022

Cancers

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Liquid biopsy has improved significantly over the last decade and is attracting attention as a tool that can complement tissue biopsy to evaluate the genetic landscape of solid tumors. In the present study, we evaluated the usefulness of liquid biopsy in daily oncology practice in different clinical contexts. We studied ctDNA and tissue biopsy to investigate EGFR, KRAS, NRAS, and BRAF mutations from 199 cancer patients between January 2016 and March 2021. The study included 114 male and 85 female patients with a median age of 68 years. A total of 122 cases were lung carcinoma, 53 were colorectal carcinoma, and 24 were melanoma. Liquid biopsy was positive for a potentially druggable driver mutation in 14 lung and colorectal carcinoma where tissue biopsy was not performed, and in two (3%) lung carcinoma patients whose tissue biopsy was negative. Liquid biopsy identified nine (45%) de novo EGFR-T790M mutations during TKI-treatment follow-up in lung carcinoma. BRAF-V600 mutation resurgence was detected in three (12.5%) melanoma patients during follow-up. Our results confirm the value of liquid biopsy in routine clinical oncologic practice for targeted therapy, diagnosis of resistance to treatment, and cancer follow-up.

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“…Several methods are used to identify these molecular alterations, by analyzing protein expression levels using immunohistochemistry (IHC), by assessing mutations in tumor DNA, and by assessing the fusion of certain genes of interest (i.e., ALK , ROS1 , NTRK , RET ) using IHC and notably fluorescence in situ hybridization (FISH) [ 15 ]. A reference method for the study of mutations in tumor DNA was historically Sanger sequencing, described in 1977, which has been superseded by the routine use of real-time PCR (qPCR) [ 20 ]. A still commonly used strategy is based on sequential exclusion testing looking for mutations that are mutually exclusive with others or using hotspot screening to search for exploitable molecular alterations.…”

Section: Introductionmentioning

confidence: 99%

“…A still commonly used strategy is based on sequential exclusion testing looking for mutations that are mutually exclusive with others or using hotspot screening to search for exploitable molecular alterations. In contrast, next-generation sequencing (NGS) allows for broad molecular profiling and allows for the simultaneous detection of both common targetable and rare mutations at the tumor DNA level and are able to identify translocations at the RNA level [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

Molecular Profiling in Non-Squamous Non-Small Cell Lung Carcinoma: Towards a Switch to Next-Generation Sequencing Reflex Testing

Pujol

Heeke

Bontoux

et al. 2022

JPM

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Molecular diagnosis of lung cancer is a constantly evolving field thanks to major advances in precision oncology. The wide range of actionable molecular alterations in non-squamous non-small cell lung carcinoma (NS-NSCLC) and the multiplicity of mechanisms of resistance to treatment resulted in the need for repeated testing to establish an accurate molecular diagnosis, as well as to track disease evolution over time. While assessing the increasing complexity of the molecular composition of tumors at baseline, as well as over time, has become increasingly challenging, the emergence and implementation of next-generation sequencing (NGS) testing has extensively facilitated molecular profiling in NS-NSCLC. In this review, we discuss recent developments in the molecular profiling of NS-NSCLC and how NGS addresses current needs, as well as how it can be implemented to address future challenges in the management of NS-NSCLC.

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Molecular testing in stage I–III non-small cell lung cancer: Approaches and challenges

Cited by 25 publications

References 76 publications

Assessing Oncologists’ Attitudes Concerning Comprehensive Genomic Profiling in Stage IV Lung Adenocarcinoma in Brazil

Assessing Oncologists’ Attitudes Concerning Comprehensive Genomic Profiling in Stage IV Lung Adenocarcinoma in Brazil

Utility of ctDNA Liquid Biopsies from Cancer Patients: An Institutional Study of 285 ctDNA Samples

Molecular Profiling in Non-Squamous Non-Small Cell Lung Carcinoma: Towards a Switch to Next-Generation Sequencing Reflex Testing

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