Global analysis of genomic alterations associated with AKT and ERK pathway in esophageal squamous cell carcinoma

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Using resected ESCC specimens,we investigate mutations of KRAS,BRAF and PIK3CA by Pyrosequencing technology.As a result,the KRAS mutation was found to be extremely rare(1 of 203;0.5%),and the BRAF mutation was absent(0 of 203;0%),suggesting that KRAS and BRAF mutations play a limited role in the development of ESCC.However,PIK3CA mutations mutations in ESCC are associated with longer overall survival and cancer-specific survival,suggesting its role as a prognostic biomarker.We evaluated colorectal cancer with synchronous liver metastases. We evaluated KRAS,BRAF,and PIK3CA mutation status and microsatellite instability(MSI) status in 42 liver metastases, 26 matched primary tumors, and 6 matched lymph node(LN) metastases by Pyrosequencing technology.We also quantified LINE-1 methylation levels.The concordance rate was 94% for KRAS,100% for BRAF,88% for PIK3CA,and 97% for MSI.Primary tumors showed LINE-1 methylation levels similar to those of matched liver and LN metastases.