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Detection of hot-spot mutations in circulating cell-free DNA from patients with intraductal papillary mucinous neoplasms of the pancreas

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 s...

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Bibliographic Details
Main Authors: Berger, Andreas W. (Author) , Hackert, Thilo (Author) , Strobel, Oliver (Author) , Büchler, Markus W. (Author)
Format: Article (Journal)
Language:English
Published: August 2016
In: Gastroenterology
Year: 2016, Volume: 151, Issue: 2, Pages: 267-270
ISSN:1528-0012
DOI:10.1053/j.gastro.2016.04.034
Online Access:Verlag, Volltext: http://dx.doi.org/10.1053/j.gastro.2016.04.034
Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S0016508516343384
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Author Notes:Andreas W. Berger, Daniel Schwerdel, Ivan G. Costa, Thilo Hackert, Oliver Strobel, Sandra Lam, Thomas F. Barth, Bernd Schröppel, Alexander Meining, Markus W. Büchler, Martin Zenke, Patrick C. Hermann, Thomas Seufferlein, and Alexander Kleger
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Summary: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.
Item Description:Gesehen am 06.12.2018
Physical Description:Online Resource
ISSN:1528-0012
DOI:10.1053/j.gastro.2016.04.034

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