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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.
AuthorsElisa Boldrin, Enrica Rumiato, Matteo Fassan, Laura Balsamo, Stefano Realdon, Giorgio Battaglia, Massimo Rugge, Alberto Amadori, Daniela Saggioro
JournalTranslational research : the journal of laboratory and clinical medicine (Transl Res) Vol. 176 Pg. 127-31 (10 2016) ISSN: 1878-1810 [Electronic] United States
PMID27234667 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2016 Elsevier Inc. All rights reserved.
Chemical References
  • DNA
Topics
  • Aged
  • Barrett Esophagus (blood, pathology, surgery)
  • Base Sequence
  • Biopsy (methods)
  • Carcinogenesis (genetics, pathology)
  • DNA (blood, isolation & purification)
  • Endoscopy
  • Humans
  • Loss of Heterozygosity (genetics)
  • Male
  • Middle Aged
  • Mucous Membrane (pathology, surgery)

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