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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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Hauptverfasser: Berger, Andreas W. (VerfasserIn) , Hackert, Thilo (VerfasserIn) , Strobel, Oliver (VerfasserIn) , Büchler, Markus W. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: August 2016
In: Gastroenterology
Year: 2016, Jahrgang: 151, Heft: 2, Pages: 267-270
ISSN:1528-0012
DOI:10.1053/j.gastro.2016.04.034
Online-Zugang:Verlag, Volltext: http://dx.doi.org/10.1053/j.gastro.2016.04.034
Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S0016508516343384
Volltext
Verfasserangaben: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
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 06.12.2018
Beschreibung:Online Resource
ISSN:1528-0012
DOI:10.1053/j.gastro.2016.04.034

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