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J Clin Pathol 66:192-197 doi:10.1136/jclinpath-2012-201123
  • Original article

Genetic and epigenetic markers in the evaluation of pancreatic masses

  1. Joan Fabregat5
  1. 1Translational Research Laboratory, Hereditary Cancer Program, Institut Català d´Oncologia-IDIBELL, Barcelona, Spain
  2. 2Department of Clinical Biochemistry, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
  3. 3Institut de Medicina Predictiva i Personalitzada del Càncer (IMPPC), Badalona, Spain
  4. 4Department of Gastroenterology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
  5. 5Department of Surgery, Hepatopancreatic Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain
  6. 6Department of Pathology, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain
  1. Correspondence to Dr Gabriel Capellà, Translational Research Laboratory, Hereditary Cancer Program, Institut Català d´Oncologia-IDIBELL, 08917 L'Hospitalet de LLobregat, Barcelona, Spain; gcapella{at}iconcologia.net
  • Received 2 August 2012
  • Revised 4 October 2012
  • Accepted 9 October 2012
  • Published Online First 7 November 2012

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.

Experimental design 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.