Detection of KRAS, NRAS and BRAF by mass spectrometry - a sensitive, reliable, fast and cost-effective technique

摘要: According to current clinical guidelines mutational analysis for KRAS and NRAS is recommended prior EGFR-directed therapy of colorectal cancer (CRC) in the metastatic setting. Therefore, reliable, fast, sensitive cost-effective methods routine tissue based molecular diagnostics are required that allow assessment CRC status a high throughput fashion. We have developed custom designed assay mass-spectrometric (MS) (MassARRAY®, Agena Bioscience) test presence/absence 18 KRAS, 14 4 BRAF mutations. applied this 93 samples from patients with compared results Sanger sequencing chip hybridization (KRAS LCD-array Kit, Chipron). In cases discordant results, next-generation (NGS) was performed. MS detected mutation 46/93 (49 %), 2/93 (2 %) 1/93 (1 %) cases. were agreement obtained by combination two other 92 (99 %) G12V has been MS, but not assay. case, NGS confirmed KRAS. Mutational reliable method diagnostic use, which can be easily extended testing additional