title: Liquid biopsy as a novel tool to monitor the carcinogenesis of Barrett's esophagus.
abstract: Barrett's esophagus (BE) is associated with an increased risk of developing esophageal adenocarcinoma. For this reason, endoscopic-based surveillance protocols have been developed. This prevention program is, however, burdensome for the patients and expensive for the national health systems. Thus, diagnostic strategies with a low invasiveness and a reduced economic impact are required. This study investigated the power of plasma circulating free DNA (cfDNA) in predicting neoplastic transformation in the natural history of two BE patients who progressed to esophageal adenocarcinoma. Longitudinally collected DNAs from plasma and paired formalin fixed paraffin embedded samples were examined for both loss of heterozygosity (LOH) in areas proximal to TP53, FHIT and BRCA2 genes, and mutations in TP53 gene. Results showed that: (i) early BE molecular alterations are mainly localized proximal to, or within, TP53 gene; (ii) LOH events present in cfDNA not only retrace the time-matched biopsy profile but better represent the total alterations of the BE epithelium. In conclusion, our findings suggested that LOH analysis in plasma cfDNA could represent an additional, less invasive, diagnostic tool to monitor neoplastic progression of BE epithelium.
authors.affiliation: Immunology and Molecular Oncology, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Boldrin
authors.affiliation: Immunology and Molecular Oncology, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy.
authors.forename: Enrica
authors.initials: E
authors.lastname: Rumiato
authors.affiliation: Department of Medicine (DIMED), Surgical Pathology and Cytopathology, University of Padova, Padova, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Fassan
authors.affiliation: Department of Medicine (DIMED), Surgical Pathology and Cytopathology, University of Padova, Padova, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Balsamo
authors.affiliation: Endoscopy Unit, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Realdon
authors.affiliation: Endoscopy Unit, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Battaglia
authors.affiliation: Department of Medicine (DIMED), Surgical Pathology and Cytopathology, University of Padova, Padova, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Rugge
authors.affiliation: Immunology and Molecular Oncology, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy; Department of Surgical Sciences, Oncology and Gastroenterology, University of Padova, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Amadori
authors.affiliation: Immunology and Molecular Oncology, Veneto Institute of Oncology IOV-IRCCS, Padova, Italy. Electronic address: d.saggioro@unipd.it.
authors.forename: Daniela
authors.initials: D
authors.lastname: Saggioro
mesh_terms: D000368:Aged; D001471:Barrett Esophagus / Q000097:blood / Q000473:pathology* / Q000601:surgery; D001483:Base Sequence; D001706:Biopsy / Q000379:methods*; D063646:Carcinogenesis / Q000235:genetics / Q000473:pathology*; D004247:DNA / Q000097:blood / Q000302:isolation & purification; D004724:Endoscopy; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009092:Mucous Membrane / Q000473:pathology / Q000601:surgery
chemical_list: D004247:DNA