Detection of Hot-Spot Mutations in Circulating Cell-Free DNA From Patients With Intraductal Papillary Mucinous Neoplasms of the Pancreas

被引：73

作者：

Berger, Andreas W. ^{[1
]}

Schwerdel, Daniel ^{[1
]}

Costa, Ivan G. ^{[2
]}

Hackert, Thilo ^{[3
]}

Strobel, Oliver ^{[3
]}

Lam, Sandra ^{[1
]}

Barth, Thomas F. ^{[4
]}

Schroeppel, Bernd ^{[1
]}

Meining, Alexander ^{[1
]}

Buechler, Markus W. ^{[3
]}

Zenke, Martin ^{[5
]}

Hermann, Patrick C. ^{[1
]}

Seufferlein, Thomas ^{[1
]}

Kleger, Alexander ^{[1
]}

机构：

[1] Univ Ulm, Dept Internal Med 1, Albert Einstein Allee 23, D-89081 Ulm, Germany

[2] Rhein Westfal TH Aachen, Sch Med, IZKF Computat Biol Res Grp, Aachen, Germany

[3] Univ Heidelberg Hosp, Dept Gen Surg, Heidelberg, Germany

[4] Univ Ulm, Inst Pathol, Albert Einstein Allee 23, D-89081 Ulm, Germany

[5] Rhein Westfal TH Aachen, Inst Biomed Engn, Dept Cell Biol, Sch Med, Aachen, Germany

来源：

GASTROENTEROLOGY | 2016年 / 151卷 / 02期

关键词：

Genetic; Biomarker; Prognostic Factor; Diagnostic; IPMN; PDAC; CANCER; PLASMA; CYSTS; GNAS;

D O I：

10.1053/j.gastro.2016.04.034

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

100201 [内科学];

摘要：

Intraductal papillary mucinous neoplasms (IPMNs) are the most frequent cystic pancreatic tumors. Little is known about their molecular alterations, but mutations in GNAS have been reported to promote IPMN formation. A tumor-derived fraction of circulating cell-free DNA (cfDNA), isolated from blood samples, contains many of the same mutations as the primary tumor, and could be a tool for noninvasive disease monitoring. We found that the total amount of cfDNA can discriminate between individuals without pancreatic lesions (controls) and patients with Fukuoka-negative branch-duct IPMN or pancreatic cancer. Furthermore, we detected GNAS mutations in cfDNA from patients with IPMN, but not in patients with serous cystadenoma or controls. Analyses of cfDNA might therefore be used in the diagnosis of patients with IPMN or in monitoring disease progression.

引用

页码：267 / 270

页数：4

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