Abstract

The identification of the optimal cancer treatment has become progressively more intricate for non-small-cell lung cancer (NSCLC) patients due to the multitude of options available. The testing of biomarkers to predict clinical responses to therapies is pivotal to stratify the patients based on the molecular features of their tumors. The number of actionable genetic alterations to be tested is increasing together with the comprehension of the molecular mechanisms underlying tumor growth and development. The possibility of using next generation sequencing-based approaches enhanced the acquisition of genetic data with potential clinical usefulness, and favored the integration of precision medicine in clinical practice. The availability of targeted sequencing panels that cover genetic alterations in hundreds of genes allows the performance of a comprehensive genomic profiling (CGP) of lung tumors. However, different issues still need to be solved, from the tissue needed for next generation sequencing analysis, to the choice of the test and its interpretation in the clinical context. This position paper from the Italian Association of Thoracic Oncology (AIOT) summarizes the results of a discussion from a Precision Medicine Panel meeting on the challenges to bringing CGP and, therefore, precision medicine into the daily clinical practice.

Highlights

  • The selection of the most appropriate cancer treatment for lung cancer patients has become more complex due to the variety of options available

  • The use of biomarkers to identify population subgroups with impressive responses to targeted therapies, as observed in ALK-rearranged and ROS1-rearranged non-small-cell lung cancer (NSCLC), for which crizotinib was associated with remarkably prolonged survival [2], and in NSCLC carrying EGFR activating mutations, which are Cancers 2020, 12, 1627; doi:10.3390/cancers12061627

  • Immune checkpoint inhibitors (ICIs) have represented a major breakthrough in lung cancer therapy, a majority of patients do not benefit from this approach and, biomarkers are definitely needed for better patient stratification

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Summary

Introduction

The selection of the most appropriate cancer treatment for lung cancer patients has become more complex due to the variety of options available. Immune checkpoint inhibitors (ICIs) have represented a major breakthrough in lung cancer therapy, a majority of patients do not benefit from this approach and, biomarkers are definitely needed for better patient stratification In this regard, CGP can provide information on tumor mutation burden (TMB) and on several genetic alterations that might affect the efficacy of ICIs [9]. In order to bring CGP and precision medicine into our daily clinical practice, it is necessary to define a clear path that goes from the tissue needed for generation sequencing analysis, to the choice of the test and its interpretation in the clinical context This position paper from the Italian Association of Thoracic Oncology

The Samples
Result interpretation
The Test
Informed Consent and Privacy
The Sample
Comprehensive Genomic Profiling Technologies
Organization of a Laboratory Performing CGP Tests
Interpretation of CGP Test Results
Management of Incidental Findings
Mutational Report
Clinical Applicability
Findings
Conclusions
Full Text
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