title: Detection of Hot-Spot Mutations in Circulating Cell-Free DNA From Patients With Intraductal Papillary Mucinous Neoplasms of the Pancreas.
abstract: 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.
authors.affiliation: Department of Internal Medicine I, Ulm University, Ulm, Germany.
authors.forename: Andreas W
authors.initials: AW
authors.lastname: Berger
authors.affiliation: Department of Internal Medicine I, Ulm University, Ulm, Germany.
authors.forename: Daniel
authors.initials: D
authors.lastname: Schwerdel
authors.affiliation: IZKF Computational Biology Research Group, RWTH Aachen University Medical School, Aachen, Germany.
authors.forename: Ivan G
authors.initials: IG
authors.lastname: Costa
authors.affiliation: Department of General Surgery, University Hospital Heidelberg, Heidelberg, Germany.
authors.forename: Thilo
authors.initials: T
authors.lastname: Hackert
authors.affiliation: Department of General Surgery, University Hospital Heidelberg, Heidelberg, Germany.
authors.forename: Oliver
authors.initials: O
authors.lastname: Strobel
authors.affiliation: Department of Internal Medicine I, Ulm University, Ulm, Germany.
authors.forename: Sandra
authors.initials: S
authors.lastname: Lam
authors.affiliation: Institute of Pathology, Ulm University, Ulm, Germany.
authors.forename: Thomas F
authors.initials: TF
authors.lastname: Barth
authors.affiliation: Department of Internal Medicine I, Ulm University, Ulm, Germany.
authors.forename: Bernd
authors.initials: B
authors.lastname: Schröppel
authors.affiliation: Department of Internal Medicine I, Ulm University, Ulm, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Meining
authors.affiliation: Department of General Surgery, University Hospital Heidelberg, Heidelberg, Germany.
authors.forename: Markus W
authors.initials: MW
authors.lastname: Büchler
authors.affiliation: Department of Cell Biology, Institute for Biomedical Engineering, RWTH Aachen University Medical School, Aachen, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Zenke
authors.affiliation: Department of Internal Medicine I, Ulm University, Ulm, Germany.
authors.forename: Patrick C
authors.initials: PC
authors.lastname: Hermann
authors.affiliation: Department of Internal Medicine I, Ulm University, Ulm, Germany. Electronic address: Thomas.seufferlein@uniklinik-ulm.de.
authors.forename: Thomas
authors.initials: T
authors.lastname: Seufferlein
authors.affiliation: Department of Internal Medicine I, Ulm University, Ulm, Germany. Electronic address: alexander.kleger@uni-ulm.de.
authors.forename: Alexander
authors.initials: A
authors.lastname: Kleger
mesh_terms: D002288:Adenocarcinoma, Mucinous / Q000097:blood / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000368:Aged; D021441:Carcinoma, Pancreatic Ductal / Q000097:blood / Q000235:genetics* / Q000473:pathology; D002291:Carcinoma, Papillary / Q000097:blood / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D002474:Cell-Free System; D004252:DNA Mutational Analysis / Q000379:methods; D004273:DNA, Neoplasm / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009360:Neoplastic Cells, Circulating / Q000378:metabolism / Q000473:pathology*; D010179:Pancreas / Q000473:pathology; D010190:Pancreatic Neoplasms / Q000097:blood / Q000235:genetics* / Q000473:pathology; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D004273:DNA, Neoplasm
keywords: Biomarker; Diagnostic; Genetic; IPMN; PDAC; Prognostic Factor