Clinical next-generation sequencing in patients with non-small cell lung cancer.

摘要: BACKGROUND A clinical assay was implemented to perform next-generation sequencing (NGS) of genes commonly mutated in multiple cancer types. This report describes the feasibility and diagnostic yield this 381 consecutive patients with non–small cell lung (NSCLC). METHODS Clinical targeted 23 performed DNA from formalin-fixed, paraffin-embedded (FFPE) tumor tissue. The used Agilent SureSelect hybrid capture followed by Illumina HiSeq 2000, MiSeq, or 2500 a College American Pathologists–accredited, Clinical Laboratory Improvement Amendments–certified laboratory. Single-nucleotide variants insertion/deletion events were reported. before methods developed detect rearrangements NGS. RESULTS Two hundred nine all requisitioned samples (55%) successfully sequenced. most common reason for not performing an insufficient quantity tissue available blocks (29%). Excisional, endoscopic, core biopsy specimens sufficient testing 95%, 66%, 40% cases, respectively. median turnaround time (TAT) pathology laboratory 21 days, there trend improved TAT more rapid platforms. Sequencing yielded mean coverage 1318×. Potentially actionable mutations (ie, predictive prognostic) identified 46% 209 found KRAS (28%), epidermal growth factor receptor (14%), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (4%), phosphatase tensin homolog (1%), BRAF (1%). Five percent had mutations. A therapy instituted on basis NGS 11% sequenced 6% patients. CONCLUSIONS NGS-based diagnostics are feasible NSCLC provide clinically relevant information readily FFPE sample type is associated probability successful testing. Cancer 2015;121:631–639. © 2014 Society.