ngs superseeded sequential testing nsclc

#Ngs superseeded sequential testing nsclc trial
#Ngs superseeded sequential testing nsclc torrent

Concordant VAFs suggests doublet EGFR mutations were present in a dominant clone and cooperated in oncogenesis. Doublet (compound) EGFR mutations were observed in 29 (16%) of 187 EGFR-mutated tumors, including 69% with two non-p.L858R missense mutations and 24% with p.L858 and non-p.L858R missense mutations. NGS provided accurate sequencing of complex mutations seen in 19% of EGFR exon 19 deletion mutations. With a broader reportable range, exon 19 deletion and p.L858R accounted for only 36% and 26% of EGFR mutations and p.V600E accounted for only 24% of BRAF mutations. Mutations were detected in KRAS (36% of tumors), EGFR (19%) including 8 (0.8%) within the extracellular domain (4 at codons 108 and 4 at codon 289), BRAF (6.3%), and PIK3CA (3.7%).

#Ngs superseeded sequential testing nsclc torrent

A single bioinformatics pipeline using Torrent Variant Caller, however, missed a variety of EGFR mutations. Among 760 mutations detected, the variant allele frequency (VAF) was 2–5% in 33 (4.3%) mutations and 2–10% in 101 (13%) mutations. Here, we report our experience using next generation sequencing (NGS) to examine AKT1, BRAF, EGFR, ERBB2, KRAS, NRAS, and PIK3CA genes in 1006 non-small cell lung cancers in a clinical diagnostic setting. Received: FebruAccepted: Published: May 20, 2017Īnalysis of lung adenocarcinomas for actionable mutations has become standard of care. Illei, email: Lin, email: lung, mutation, sequencing, cancer, profiling *These authors contributed equally to this work Forde 4 and Ming-Tseh Lin 1ġDepartment of Pathology, Johns Hopkins University School of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, USAĢDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, TaiwanģDivision of Hematology and Bone Marrow Transplantation, University of Udine Hospital, Udine, ItalyĤDepartment of Oncology, Johns Hopkins University School of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, USA Illei 1, *, Deborah Belchis 1, *, Li-Hui Tseng 1, 2, Doreen Nguyen 1, Federico De Marchi 1, 3, Lisa Haley 1, Stacy Riel 1, Katie Beierl 1, Gang Zheng 1, Julie R.

#Ngs superseeded sequential testing nsclc trial

Clinical trial information: NCT03558165.Peter B. Conclusions: Although a key barrier to implementation is lack of funding for NGS in the Canadian publicly funded system, the OCAv3 consolidates genomic testing, identifies additional actionable targets, and substantially increases clinical trial eligibility for patients at a small incremental cost. If ROS-1 and BRAF testing were publicly reimbursed at current rates, the incremental profiling cost with OCAv3 would be $90 CAD per case.

Incremental costs per case beyond EGFR/ALK are estimated at $540 CAD. Failure of NGS was secondary to insufficient tissue. New clinical trial options were identified in 70%. Actionable targets beyond SOC were identified in 33% (N = 13): ERBB2 (N = 8), BRAFV600 (N = 3), NRG fusion (N = 1), MET exon 14 (N = 1). Results: Of 65 enrolled patients (Feb 2018-Jan 2019 40 (62%) completed/14 (21%) screen fail/ 11 (17%) pending), median age of completed cohort was 65, 60% (N = 24) female, never/light smokers 68% (N = 27), Asian 38% (N = 15), previously treated 33% (N = 13). Secondary endpoints include feasibility and cost from the Canadian public healthcare perspective, and treatment outcomes. Primary endpoints were incremental actionable targets and clinical trial opportunities as a result of broader OCAv3 testing. Methods: In a prospective study of stage IV NSCLC out-patients at Princess Margaret Cancer Centre (Toronto) without EGFR/ALK/KRAS/BRAF alteration (unless failure of prior targeted therapy), diagnostic samples were tested by OCAv3 (ThermoFisher 161 genes: hotspots, fusions, and copy number variations). This study evaluated costs, identified actionable targets, and determined clinical trial eligibility as a result of using the OCAv3 NGS in stage IV NSCLC patients. Other genomic alterations are not tested routinely however, enhanced molecular testing may broaden treatment options for patients. Background: Standard of care (SOC) molecular diagnostics for stage IV NSCLC patients in Ontario, Canada includes publicly reimbursed EGFR/ ALK, and selected BRAF and ROS-1 testing.