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

在切除的食管癌标本中，我们用焦磷酸测序技术研究了KRAS、BRAF和PIK3CA的突变。结果发现，KRAS突变是极其罕见的(1/203；0.5%)，而BRAF突变是不存在的(0/203；0%)，这表明KRAS和BRAF突变在ESCC的发生发展中所起的作用是有限的。但是，在ESCC中，PIK3CA突变与更长的总生存期和癌症特异性生存期相关，这表明它是一个预后生物标志物。我们用焦磷酸测序技术检测了42例肝转移癌、26例匹配的原发肿瘤和6例匹配的淋巴结(LN)转移瘤中KRAS、BRAF和PIK3CA的突变状态和微卫星不稳定性(MSI)状态。我们还量化了LINE-1甲基化水平。KRAS、BRAF、PIK3CA和MSI的符合率分别为94%、100%、88%和97%。

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.