Deep Sequencing of Cancer-Related Genes Revealed GNAS Mutations to Be Associated with Intraductal Papillary Mucinous Neoplasms and Its Main Pancreatic Duct Dilation
Deep Sequencing of Cancer-Related Genes Revealed GNAS Mutations to Be Associated with Intraductal Papillary Mucinous Neoplasms and Its Main Pancreatic Duct Dilation
复制标题
DOI：
10.1371/journal.pone.0098718
复制
发表时间：
2014-06-04
期刊：
影响因子：
3.7
通讯作者：
Enomoto, Nobuyuki
中科院分区：
文献类型：
--
作者：
Takano, Shinichi;Fukasawa, Mitsuharu;Enomoto, Nobuyuki
背景：为了阐明与导管内乳头状粘液性肿瘤(IPMN)及相关胰腺肿瘤相关的基因突变，我们用纯胰液和切除的胰腺组织进行了癌相关基因谱分析。方法：收集152例患者的纯胰液[正常胰腺9例，慢性胰腺炎(CP)22例，胰腺导管腺癌(PDAC)39例，IPMN 82例]，切除胰腺组织48例(IPMN 6例，PDAC 42例)。提取的DNA通过针对46个肿瘤相关基因的多重聚合酶链式反应(PCR)扩增，包含739个突变热点。结果：在46个肿瘤相关基因中，KRAS和GNAS突变在PDAC和IPMN中都是最常见的突变。单纯胰液中GNAS基因突变在PDAC组和IPMN组分别为7.7%和41.5%(P
Background: To clarify the genetic mutations associated with intraductal papillary mucinous neoplasms (IPMN) and IPMN-related pancreatic tumours, we conducted cancer-related gene profiling analyses using pure pancreatic juice and resected pancreatic tissues.Methods: Pure pancreatic juice was collected from 152 patients [nine with a normal pancreas, 22 with chronic pancreatitis (CP), 39 with pancreatic ductal adenocarcinoma (PDAC), and 82 with IPMN], and resected tissues from the pancreas were collected from 48 patients (six IPMNs and 42 PDACs). The extracted DNA was amplified by multiplexed polymerase chain reaction (PCR) targeting 46 cancer-related genes containing 739 mutational hotspots. The mutations were analysed using a semiconductor-based DNA sequencer.Results: Among the 46 cancer-related genes, KRAS and GNAS mutations were most frequently detected in both PDAC and IPMN cases. In pure pancreatic juice, GNAS mutations were detected in 7.7% of PDAC cases and 41.5% of IPMN cases (p