Liquid biopsy and non-small cell lung cancer: are we looking at the tip of the iceberg?

Bonanno, Laura; Maso, Alessandro Dal; Pavan, Alberto; Zulato, Elisabetta; Calvetti, Lorenzo; Pasello, Giulia; Guarneri, Valentina; Conté, Pierfranco; Indraccolo, Stefano

doi:10.1038/s41416-022-01777-8

Cited by 54 publications

(45 citation statements)

References 170 publications

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“…In addition to tissue-based testing approaches, liquid biopsies using circulating tumor DNA (ctDNA) are also critical for clinical recommendations and are thus recommended by the IASLC [ 104 ]. However, the importance of liquid biopsies compared to tissue have been reviewed extensively, and the following paragraph should only give a brief overview [ 105 , 106 , 107 , 108 ]. Importantly, liquid biopsies can help to adjust treatment decisions under active treatment through the detection of resistance mechanisms but can also replace tissue-based testing when specimen have been exhausted or are too limited [ 109 ], a situation in which the validation of NGS assays designated for low DNA input is crucial.…”

Section: From Multiple Companion Biomarkers To Ngs?mentioning

confidence: 99%

“…Importantly, liquid biopsies can help to adjust treatment decisions under active treatment through the detection of resistance mechanisms but can also replace tissue-based testing when specimen have been exhausted or are too limited [ 109 ], a situation in which the validation of NGS assays designated for low DNA input is crucial. It can further help as a prognostic tool through the determination of minimal residual disease (MRD) [ 107 ]. Consequently, it is critical to further ensure that liquid biopsies are implemented in NSCLC and become standard when tissue biopsies are absent or not possible.…”

Section: From Multiple Companion Biomarkers To Ngs?mentioning

confidence: 99%

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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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Section: From Multiple Companion Biomarkers To Ngs?mentioning

confidence: 99%

Section: From Multiple Companion Biomarkers To Ngs?mentioning

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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“…NGS-based methods in liquid biopsy offer a wider spectrum of molecular information obtained through a single analysis. Despite the higher cost, longer turn-around time, and relatively lower sensitivity rates, NGS-based methods in liquid biopsy could positively affect the clinical management of NSCLC patients [ 85 , 86 ]. A multigene NGS approach in liquid biopsy is already included in the guidelines recently issued by the International Society for the Study of Lung Cancer (IASLC) and the European Society for Medical Oncology focused on the personalized treatment of NSCLC patients, providing biomarkers of prognostic significance during disease monitoring, and revealing the presence of alternative druggable alterations at the progression of the disease [ 87 ].…”

Section: Liquid Biopsymentioning

confidence: 99%

Liquid Biopsy Analysis as a Tool for TKI-Based Treatment in Non-Small Cell Lung Cancer

Buszka

Ntzifa

Owecka

et al. 2022

Cells

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The treatment of non-small cell lung cancer (NSCLC) has recently evolved with the introduction of targeted therapy based on the use of tyrosine kinase inhibitors (TKIs) in patients with certain gene alterations, including EGFR, ALK, ROS1, BRAF, and MET genes. Molecular targeted therapy based on TKIs has improved clinical outcomes in a large number of NSCLC patients with advanced disease, enabling significantly longer progression-free survival (PFS). Liquid biopsy is an increasingly popular diagnostic tool for treating TKI-based NSCLC. The studies presented in this article show that detection and analysis based on liquid biopsy elements such as circulating tumor cells (CTCs), cell-free DNA (cfDNA), exosomes, and/or tumor-educated platelets (TEPs) can contribute to the appropriate selection and monitoring of targeted therapy in NSCLC patients as complementary to invasive tissue biopsy. The detection of these elements, combined with their molecular analysis (using, e.g., digital PCR (dPCR), next generation sequencing (NGS), shallow whole genome sequencing (sWGS)), enables the detection of mutations, which are required for the TKI treatment. Despite such promising results obtained by many research teams, it is still necessary to carry out prospective studies on a larger group of patients in order to validate these methods before their application in clinical practice.

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“…This proves that liquid biopsy is still not the ideal material for diagnostic manner, but its utility is invaluable if the primary tissue is scarce or unavailable, or if there are no possibilities to perform a re-biopsy. On the other hand, liquid biopsy indicated a high value in monitoring the response to TKIs in NSCLC [ 60 ].…”

Section: Liquid Biopsy—diagnostic Issuesmentioning

confidence: 99%

“…Since then, a liquid biopsy was widely used in monitoring response to molecularly targeted therapies in many solid tumors, such as breast cancer [ 114 ], colorectal cancer [ 115 ], pancreatic cancer [ 116 ], and head and neck cancer [ 117 ]. However, its great impact was recently valued in NSCLC [ 60 ] when a liquid biopsy was applied for analysis of “druggable” abnormalities such as mutations in EGFR [ 118 ] and BRAF [ 119 ] genes, as well as ALK and ROS1 rearrangements [ 120 ] or MET amplification [ 121 ].…”

Section: Role Of Liquid Biopsy In the Monitoring Of Response To Perso...mentioning

confidence: 99%

The Overview of Perspectives of Clinical Application of Liquid Biopsy in Non-Small-Cell Lung Cancer

Bożyk

Nicoś

2022

Life

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The standard diagnostics procedure for non-small-cell lung cancer (NSCLC) requires a pathological evaluation of tissue samples obtained by surgery or biopsy, which are considered invasive sampling procedures. Due to this fact, re-sampling of the primary tumor at the moment of progression is limited and depends on the patient’s condition, even if it could reveal a mechanism of resistance to applied therapy. Recently, many studies have indicated that liquid biopsy could be provided for the noninvasive management of NSCLC patients who receive molecularly targeted therapies or immunotherapy. The liquid biopsy of neoplastic patients harbors small fragments of circulating-free DNA (cfDNA) and cell-free RNA (cfRNA) secreted to the circulation from normal cells, as well as a subset of tumor-derived circulating tumor cells (CTCs) or circulating tumor DNA (ctDNA). In NSCLC patients, a longitudinal assessment of genetic alterations in “druggable” genes in liquid biopsy might improve the follow-up of treatment efficacy and allow for the detection of an early progression before it is detectable in computed tomography or a clinical image. However, a liquid biopsy may be used to determine a variety of relevant molecular or genetic information for understanding tumor biology and its evolutionary trajectories. Thus, liquid biopsy is currently associated with greater hope for common diagnostic and clinical applications. In this review, we would like to highlight diagnostic challenges in the application of liquid biopsy into the clinical routine and indicate its implications on the metastatic spread of NSCLC or monitoring of personalized treatment regimens.

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Liquid biopsy and non-small cell lung cancer: are we looking at the tip of the iceberg?

Cited by 54 publications

References 170 publications

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

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

Liquid Biopsy Analysis as a Tool for TKI-Based Treatment in Non-Small Cell Lung Cancer

The Overview of Perspectives of Clinical Application of Liquid Biopsy in Non-Small-Cell Lung Cancer

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