Detection of gene mutation in pancreatic mucinous cystadenocarcinoma and its clinical significance
10.3872/j.issn.1007-385x.2019.04.011
- VernacularTitle:胰腺黏液性囊腺癌基因突变的检测及其临床意义
- Author:
GUO Chengtao
1
;
PENG Xiaobo
1
;
ZHAN Xianbao
1
Author Information
1. (Department of Oncology, Changhai Hospital Affiliated to the Naval Military Medical University
- Publication Type:Journal Article
- Keywords:
paereatic mucinous cystadenocarcinoma;
high-throughput sequencing;
gene mutation;
KRAS gene
- From:
Chinese Journal of Cancer Biotherapy
2019;26(4):440-444
- CountryChina
- Language:Chinese
-
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, MUC3A and MUC4. Twenty-four SMGs were detected in 3 of the 4 samples, namely ADAMTS9, ALDH3B1, CARD14, CSMD3, MKI67, OR1N2, PKHD1, PLCE1, RTL1, SIGLEC12, CCDC168, CEP295, CUBN, DST, HRNR, LAMA5, OR10G4, OR2T4, PLEKHG4B, RP1L1, SLC15A5, SVEP1, TAS1R1 and TNRC18. KRAS-driven gene mutations were detected in all 4 samples, including K12 hot spot mutation in 3 cases and D33E 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.
- Full text:20190411.pdf
