219P - Multicentric evaluation of amplicon-based next-generation sequencing solution for local comprehensive molecular tumor profiling

Background

Molecular profiling of tumors is an essential step in the management of cancer patients, enabling personalized treatment decisions. Oncomine Comprehensive Assay Plus (OCA+) is an amplicon-based next-generation sequencing solution that can detect multiple biomarkers, including complex biomarkers, in a single assay. Here, we aimed to evaluate the sensitivity, specificity, and concordance of this comprehensive genomic profiling solution in detecting various types of biomarkers in a multicentric study using a cohort of 190 pre-characterized clinical tumor samples.

Methods

DNA and/or RNA were obtained from formalin-fixed paraffin-embedded (FFPE) tumor samples from patients with different cancer types from 5 different centers. Samples studied addressed the complete variety of genomic alterations targeted by the Oncomine Comprehensive Assay Plus. OCA+ was used to generate libraries that were sequenced using the Ion S5 Prime system and analyzed using Ion Reporter Oncomine Comprehensive Plus - w3.0 workflow. Single nucleotide variants (SNVs), insertions/deletions (indels), copy number alterations (CNAs), gene fusions, tumor mutation burden (TMB), microsatellite instability (MSI) and Genomic instability (GIN related to HRD) results were compared to orthogonal and gold standard methods.

Results

OCA+ demonstrated a total success rate of 97.2%. High sensitivity and specificity were obtained in detecting multiple biomarkers, including complex biomarkers. The assay detected >95% of SNVs and indels with a variant allele frequency (VAF) of ≥5%, and identified gene fusions, TMB, MSI and GIN with high concordance to orthogonal methods, 90%, 70%, 84% and 93% respectively.

Conclusions

OCA+ is a sensitive and specific platform for molecular tumor profiling, including the detection of complex biomarkers. The high concordance rate with orthogonal methods highlights the assay's potential in guiding clinical decision-making for personalized cancer care. OCA+ may provide comprehensive genomic information for cancer management and may be a valuable tool for further implementing precision medicine in oncology.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

Thermo Fisher.

Funding

Thermo Fisher.

Disclosure

All authors have declared no conflicts of interest.