title: Detection of erbB2 copy number variations in plasma of patients with esophageal carcinoma.
abstract: BACKGROUND
  Mortality is high in patients with esophageal carcinoma as tumors are rarely detected before the disease has progressed to an advanced stage. Here, we sought to isolate cell-free DNA released into the plasma of patients with esophageal carcinoma, to analyze copy number variations of marker genes in the search for early detection of tumor progression.
  
  
  METHODS
  Plasma of 41 patients with esophageal carcinoma was prospectively collected before tumor resection and chemotherapy. Our dataset resulted heterogeneous for clinical data, resembling the characteristics of the tumor. DNA from the plasma was extracted to analyze copy number variations of the erbB2 gene using real-time PCR assays.
  
  
  RESULTS
  The real-time PCR assays for erbB2 gene showed significant (P = 0.001) copy number variations in the plasma of patients with esophageal carcinoma, as compared to healthy controls with high sensitivity (80%) and specificity (95%). These variations in erbB2 were negatively correlated to the progression free survival of these patients (P = 0.03), and revealed a further risk category stratification of patients with low VEGF expression levels.
  
  
  CONCLUSIONS
  The copy number variation of erbB2 gene from plasma can be used as prognostic marker for early detection of patients at risk of worse clinical outcome in esophageal cancer.
authors.affiliation: CEINGE, Centro di Ingegneria Genetica e Biotecnologia Avanzate, Naples, Italy.
authors.forename: Immacolata
authors.initials: I
authors.lastname: Andolfo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Petrosino
authors.forename: Loredana
authors.initials: L
authors.lastname: Vecchione
authors.forename: Pasqualino
authors.initials: P
authors.lastname: De Antonellis
authors.forename: Mario
authors.initials: M
authors.lastname: Capasso
authors.forename: Donatella
authors.initials: D
authors.lastname: Montanaro
authors.forename: Marica
authors.initials: M
authors.lastname: Gemei
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Troncone
authors.forename: Achille
authors.initials: A
authors.lastname: Iolascon
authors.forename: Michele
authors.initials: M
authors.lastname: Orditura
authors.forename: Fortunato
authors.initials: F
authors.lastname: Ciardiello
authors.forename: Fernando
authors.initials: F
authors.lastname: De Vita
authors.forename: Massimo
authors.initials: M
authors.lastname: Zollo
mesh_terms: D000368:Aged; D014408:Biomarkers, Tumor / Q000097:blood*; D002277:Carcinoma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D004247:DNA / Q000097:blood*; D018572:Disease-Free Survival; D055088:Early Detection of Cancer; D004938:Esophageal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005260:Female; D018628:Gene Dosage / Q000235:genetics; D018734:Genes, erbB-2 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D042461:Vascular Endothelial Growth Factor A / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; D042461:Vascular Endothelial Growth Factor A; D004247:DNA