title: Genetic and epigenetic markers in the evaluation of pancreatic masses.
abstract: BACKGROUND
  Methylation markers have shown promise in the early diagnosis of pancreatic carcinoma. The aim of this study was to assess the diagnostic utility of hypermethylation status of candidate genes in combination with KRAS mutation detection in the evaluation of pancreatic masses.
  
  
  METHODS
  Sixty-one fine needle aspirates of pancreatic masses (43 pancreatic adenocarcinomas and 18 chronic pancreatitis) were studied. Methylation status of HRH2, EN1, SPARC, CDH13 and APC were analysed using melting curve analysis after DNA bisulfite treatment. KRAS mutations were also analysed.
  
  
  RESULTS
  The methylation panel had a sensitivity of 73% (27 of 37, CI 95% 56 to 86%) and a specificity of 100% whenever two or more promoters were found hypermethylated. KRAS mutations showed a sensitivity of 77% (33 of 43, CI 95% 62 to 88%) and a specificity of 100%. Both molecular analyses added useful information to cytology by increasing the number of informative cases. When genetic and epigenetic analyses were combined sensitivity was 84% (36 of 43 CI 95% 69 to 93%) maintaining a 100% specificity.
  
  
  CONCLUSIONS
  Analysis of hypermethylation status of a panel of genes and KRAS mutation detection offer a similar diagnostic yield in the evaluation of pancreatic masses. The combined molecular analysis increases the number of informative cases without diminishing specificity.
authors.affiliation: Translational Research Laboratory, Hereditary Cancer Program, Institut Català d´Oncologia-IDIBELL, Barcelona, Spain.
authors.forename: Mireia M
authors.initials: MM
authors.lastname: Ginestà
authors.forename: Josefina
authors.initials: J
authors.lastname: Mora
authors.forename: Regina
authors.initials: R
authors.lastname: Mayor
authors.forename: Antoni
authors.initials: A
authors.lastname: Farré
authors.forename: Miquel Angel
authors.initials: MA
authors.lastname: Peinado
authors.forename: Juli
authors.initials: J
authors.lastname: Busquets
authors.forename: Teresa
authors.initials: T
authors.lastname: Serrano
authors.forename: Gabriel
authors.initials: G
authors.lastname: Capellá
authors.forename: Joan
authors.initials: J
authors.lastname: Fabregat
mesh_terms: D000230:Adenocarcinoma / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044963:Biopsy, Fine-Needle; D019175:DNA Methylation / Q000235:genetics; D044127:Epigenesis, Genetic / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009367:Neoplasm Staging; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics*; D010195:Pancreatitis / Q000175:diagnosis / Q000235:genetics*; D011237:Predictive Value of Tests; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins