中国肿瘤生物治疗杂志2019，Vol.26Issue(4)：440-444,5.DOI:10.3872/j.issn.1007-385x.2019.04.011
胰腺黏液性囊腺癌基因突变的检测及其临床意义
Detection of gene mutation in pancreatic mucinous cystadenocarcinoma and its clinical significance
摘要
Abstract
Objective:To detect the distribution of gene mutations in pancreatic mucinous cystadenocarcinoma (PMCC) by highthroughput sequencing and to explore its clinical significance. Methods: Four cases of paraffin-embedded cancer tissues and paracancerous tissues from PMCC patients, who underwent surgical resection from January 2012 to December 2016, received NGS (next generation sequencing) examination using Illumina Hiseq 2500 platform. The characteristics of gene mutation in PMCC patients were analyzed with sequencing results and clinicopathological data. Results: Seven significantly mutated genes (SMGs) were detected in all four PMCC samples, namely KRAS, AHNAK2, MUC16, MUC17, MUC19, MUC3 A and MUC4. Twenty-four SMGs were detected in3 of the 4 samples, namely ADAMTS9, ALDH3 B1, CARD14, CSMD3, MKI67, OR1 N2, PKHD1, PLCE1, RTL1, SIGLEC12, CCDC168, CEP295, CUBN, DST, HRNR, LAMA5, OR10 G4, OR2 T4, PLEKHG4 B, RP1 L1, SLC15 A5, SVEP1, TAS1 R1 and TNRC18. KRAS-driven gene mutations were detected in all 4 samples, including K12 hot spot mutation in 3 cases and D33 E non-hot spot mutation in 1 case. Conclusion: The high mutation of KRAS and MUC family in PMCC may be a potential target and biomarker for precise treatment of PMCC.关键词
胰腺黏液性囊腺癌/高通量测序/基因突变/KRAS基因Key words
paereatic mucinous cystadenocarcinoma/high-throughput sequencing/gene mutation/KRAS gene分类
医药卫生引用本文复制引用
郭承涛,彭小波,湛先保..胰腺黏液性囊腺癌基因突变的检测及其临床意义[J].中国肿瘤生物治疗杂志,2019,26(4):440-444,5.基金项目
国家自然科学基金资助项目(NO.81672892) （NO.81672892）
