| Autor: |
Nkosi D; Department of Pathology and Laboratory Medicine, School of Medicine & Dentistry, University of Rochester, Rochester, NY 14642, USA., George GV; Department of Pathology and Laboratory Medicine, School of Medicine & Dentistry, University of Rochester, Rochester, NY 14642, USA., Liu H; Department of Pathology and Laboratory Medicine, School of Medicine & Dentistry, University of Rochester, Rochester, NY 14642, USA., Buldo M; Department of Pathology and Laboratory Medicine, School of Medicine & Dentistry, University of Rochester, Rochester, NY 14642, USA., Velez MJ; Department of Pathology and Laboratory Medicine, School of Medicine & Dentistry, University of Rochester, Rochester, NY 14642, USA., Oltvai ZN; Department of Pathology and Laboratory Medicine, School of Medicine & Dentistry, University of Rochester, Rochester, NY 14642, USA. |
| Abstrakt: |
Molecular diagnostics for lung cancer is a well-established standard of care, but how to use the available diagnostic tools for optimal and cost-effective patient care remains unresolved. Here, we show that DNA-only, small gene next-generation sequencing (sNGS) panels (<50 genes) combined with ultra-rapid reflex testing for common fusion transcripts using the Idylla Genefusion assay provide a cost-effective and sufficiently comprehensive testing modality for the majority of lung cancer cases. We also demonstrate the need for additional reflex testing capability on larger DNA and fusion panels for a small subset of lung cancers bearing rare single-nucleotide variants, indels and fusion transcripts and secondary, post-treatment resistance mutations. A similar testing workflow could be adopted for other solid tumor types for which extensive gene/fusion variant profiles are available both in the treatment-naïve and post-therapy settings. |
