Performance characteristics of molecular (DNA) analysis for the diagnosis of mucinous pancreatic cysts

Gastrointest Endosc. 2014 Jan;79(1):79-87. doi: 10.1016/j.gie.2013.05.026. Epub 2013 Jul 9.


Background: Diagnosis of mucinous pancreatic cysts (MPCs) is challenging due to the poor sensitivity of cytology provided by EUS-guided-FNA (EUS-FNA).

Objective: To quantify the test characteristics of molecular (DNA) analysis in suspected low-risk MPCs.

Design: A prospective cohort study performed in between 2008 and 2011.

Setting: Academic referral center.

Patients: Consecutive patients who underwent EUS-FNA of suspected MPCs.

Intervention: EUS-FNA and molecular (DNA) analysis of cyst fluid.

Main outcome measurements: The sensitivity and specificity of molecular analysis in the diagnosis of MPCs using the criterion standard of surgical pathology in resected cysts.

Results: Patients with suspected MPCs underwent EUS-FNA and cyst fluid DNA analysis. Surgical resection was performed in 48 patients (17%), confirming a mucinous pathology in 38 (79%). In this group, molecular analysis had a sensitivity of 50% and a specificity of 80% in identifying MPCs (accuracy of 56.3%). The combination of molecular analysis with cyst fluid carcinoembryonic antigen (CEA) and cytology resulted in higher MPC diagnostic performance than either one of its individual components, with a sensitivity, specificity, and accuracy of 73.7%, 70%, and 72.9%, respectively. There was no significant difference in accuracy between molecular analysis and CEA/cytology in this group.

Limitations: Single-center experience.

Conclusion: Molecular analysis aids in the diagnosis of MPCs when cytology is nondiagnostic or cyst fluid is insufficient for CEA or its level is indeterminate. Our results do not support the routine use of molecular analysis, which should be used selectively after review of imaging findings and cyst fluid studies. Further studies are needed to assess DNA's performance in malignant cysts.

Keywords: CCD; CEA; EUS-FNA; EUS-guided FNA; HGD; IPMN; LGD; LOH; MCN; MPC; carcinoembryonic antigen; carcinoembryonic antigen/cytology diagnosis; high-grade dysplasia; intraductal papillary mucinous neoplasm; loss of heterozygosity; low-grade dysplasia; mucinous cystic neoplasm; mucinous pancreatic cyst.

MeSH terms

  • Adenocarcinoma / genetics
  • Adenocarcinoma / pathology
  • Aged
  • Carcinoembryonic Antigen / analysis
  • Cyst Fluid / chemistry*
  • DNA / analysis*
  • Endoscopic Ultrasound-Guided Fine Needle Aspiration
  • Female
  • Genes, ras
  • Humans
  • Loss of Heterozygosity
  • Male
  • Middle Aged
  • Mutation
  • Neuroendocrine Tumors / genetics
  • Neuroendocrine Tumors / pathology
  • Pancreatic Cyst / genetics*
  • Pancreatic Cyst / pathology*
  • Pancreatic Neoplasms / genetics*
  • Pancreatic Neoplasms / pathology*
  • Prospective Studies
  • Sensitivity and Specificity


  • Carcinoembryonic Antigen
  • DNA