Diagnostic mutation profiling and validation of non small cell lung cancer small biopsy samples using a high throughput platform.
作者： Anne Marie Quinn , Nicholas Hickson , Megan Adaway , Lynsey Priest , Erich Jaeger
DOI: 10.1097/JTO.0000000000000473
关键词:
摘要: Background A single platform designed for the synchronous screening of multiple mutations can potentially enable molecular profiling in samples limited tumor tissue. This approach is ideal assessment advanced non–small-cell lung cancer (NSCLC) diagnostic specimens, which often comprise small biopsies. Therefore, we aimed this study to validate mass spectrometry-based Sequenom LungCarta panel and MassARRAY using DNA extracted from a 5 μM formalin-fixed paraffin-embedded tissue section. Methods Mutations, including those with an equivocal spectrum, detected 90 cases NSCLC (72 biopsies, 13 metastatic three resections, two cytology samples) were validated by combination standard sequencing techniques, immunohistochemical staining p53 protein, next-generation TruSight Tumor panel. Results Fifty-five diagnosed 47 (52%) following genes: TP53 (22), KRAS (15), EGFR (5), MET (3), PIK3CA STK11 (2), NRF-2 EPHA5 (1), EPHA3 MAP2K1 (1). Of samples, one failed testing due poor quality DNA. An additional 7 sequencing, facilitated interpretation immunohistochemistry but required 5 × 10 sections per sample tested. Conclusions The sensitive method alterations (214 across 26 genes) optimizes use amounts isolated specimens.
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