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Clinical utility of ctDNA by amplicon based next generation sequencing in first line non small cell lung cancer patients
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Clinical utility of ctDNA by amplicon based next generation sequencing in first line non small cell lung cancer patients
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Journal Article
Clinical utility of ctDNA by amplicon based next generation sequencing in first line non small cell lung cancer patients
2024
Overview
The assessment of ctDNA has emerged as a minimally invasive avenue for molecular diagnosis and real-time tracking of tumor progression in NSCLC. However, the evaluation of ctDNA by amplicon-based NGS has been not endorsed by all the healthcare systems and remains to be fully integrated into clinical routine practice. To compare tissue single-gene with plasma multiplexed testing, we retrospectively evaluated 120 plasma samples from 12 consecutive patients with advanced non-squamous NSCLC who were part of a prospective study enrolling treatment-naïve patients and in which tissue samples were evaluated using a single-gene testing approach. While the plasma ctDNA detection of EGFR and BRAF mutations had an acceptable level of concordance with the archival tissue (85%), discordance was seen in all the patients in whom ALK alterations were only detected in tissue samples. Among six responders and six non-responders, early ctDNA mutant allelic frequency (MAF) reduction seemed to predict radiologic responses and longer survival, whereas increasing MAF values with the emergence of co-mutations like BRAF
V600E
, KRAS
G12V
or TP53
M237I
seemed to be an early indicator of molecular and radiologic progression. This report using an amplicon-based NGS assay on ctDNA underscores the real-life need for plasma and tissue genotyping as complementary tools in the diagnostic and therapeutic decision-making process.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 692/4017
/ 692/4028
/ Adult
/ Aged
/ Biomarkers, Tumor - genetics
/ Carcinoma, Non-Small-Cell Lung - blood
/ Carcinoma, Non-Small-Cell Lung - diagnosis
/ Carcinoma, Non-Small-Cell Lung - genetics
/ Carcinoma, Non-Small-Cell Lung - pathology
/ Circulating Tumor DNA - blood
/ Circulating Tumor DNA - genetics
/ CtDNA
/ Female
/ High-Throughput Nucleotide Sequencing - methods
/ Humanities and Social Sciences
/ Humans
/ Male
/ Mutation
/ NGS
/ Non-small cell lung carcinoma
/ NSCLC
/ Patients
/ Plasma
/ Proto-Oncogene Proteins B-raf - genetics
/ Science
/ Tissues
