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

• Published in: Gastrointestinal endoscopy Vol. 79; no. 1; pp. 79 - 87
• Main Authors: Al-Haddad, Mohammad, MBBS, MSc, FASGE, DeWitt, John, MD, FASGE, Sherman, Stuart, MD, FASGE, Schmidt, C. Max, MD, PhD, LeBlanc, Julia K., MD, MPH, McHenry, Lee, MD, Coté, Gregory, MD, MS, El Chafic, Abdul Hamid, MD, Luz, Leticia, MD, Stuart, Jennifer Schaffter, BS, Johnson, Cynthia S., MA, Klochan, Christen, MD, Imperiale, Thomas F., MD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 2014
• Subjects: Adenocarcinoma - genetics; Adenocarcinoma - pathology; Aged; Carcinoembryonic Antigen - analysis; Cyst Fluid - chemistry; DNA - analysis; Endoscopic Ultrasound-Guided Fine Needle Aspiration; Female; Gastroenterology and Hepatology; 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; MPC; carcinoembryonic antigen; HGD; LOH; CCD; LGD; IPMN; intraductal papillary mucinous neoplasm; low-grade dysplasia; EUS-FNA; mucinous cystic neoplasm; EUS-guided FNA; mucinous pancreatic cyst; carcinoembryonic antigen/cytology diagnosis; MCN; high-grade dysplasia; loss of heterozygosity; CEA
• ISSN: 0016-5107; 1097-6779
• DOI: 10.1016/j.gie.2013.05.026

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.