Fluorescence In Situ Hybridization to Visualize Genetic Abnormalities in Interphase Cells of Acinar Cell Carcinoma, Ductal Adenocarcinoma, and Islet Cell Carcinoma of the Pancreas

• Published in: Mayo Clinic proceedings Vol. 84; no. 9; pp. 801 - 810
• Main Authors: Dewald, Gordon W., PhD, Smyrk, Thomas C., MD, Thorland, Erik C., PhD, McWilliams, Robert R., MD, Van Dyke, Daniel L., PhD, Keefe, Jeannette G., BS, Belongie, Kimberly J., BS, Smoley, Stephanie A., BA, Knutson, Darlene L., BS, Fink, Stephanie R., BA, Wiktor, Anne E., BS, Petersen, Gloria M., PhD
• Format: Journal Article
• Language: English
• Published: Rochester, MN Mayo Foundation 01.09.2009; Elsevier, Inc; Elsevier Limited; Mayo Foundation for Medical Education and Research
• Subjects: Biological and medical sciences; Cancer; Carcinoma; Carcinoma, Acinar Cell - genetics; Carcinoma, Acinar Cell - pathology; Carcinoma, Islet Cell - genetics; Carcinoma, Islet Cell - pathology; Carcinoma, Pancreatic Ductal - genetics; Carcinoma, Pancreatic Ductal - pathology; Care and treatment; Chromosome Aberrations; Diagnosis; Female; General aspects; Genetic aspects; Humans; In situ hybridization; In Situ Hybridization, Fluorescence; Internal Medicine; Interphase - genetics; Male; Medical sciences; Methods; Original; Pancreatic Neoplasms - genetics; Pancreatic Neoplasms - pathology; United States; 5-fluorouracil; fluorescence in situ hybridization; SSC; 5FU; ND-FISH; FISH; standard saline citrate; interphase FISH to detect abnormalities of chromosome number and structure; Adenocarcinoma; Medicine; Acinar cell carcinoma; Interphase; Fluorescence in situ hybridization; Langerhans islet; Genetics; Anomaly; Malignant tumor; Tumor cell; Cancer; Endocrine pancreas
• ISSN: 0025-6196; 1942-5546
• DOI: 10.4065/84.9.801

OBJECTIVE To use fluorescence in situ hybridization (FISH) to visualize genetic abnormalities in interphase cell nuclei (interphase FISH) of acinar cell carcinoma, ductal adenocarcinoma, and islet cell carcinoma of the pancreas. PATIENTS AND METHODS Between April 4, 2007, and December 4, 2008, interphase FISH was used to study paraffin-embedded preparations of tissue obtained from 18 patients listed in the Mayo Clinic Biospecimen Resource for Pancreas Research with a confirmed diagnosis of acinar cell carcinoma, ductal adenocarcinoma, islet cell carcinoma, or pancreas without evidence of neoplasia. FISH probes were used for chromosome loci of APC (see glossary at end of article for expansion of all gene symbols), BRCA2, CTNNB1, EGFR, ERBB2, CDKN2A, TP53, TYMP, and TYMS . These FISH probes were used with control probes to distinguish among various kinds of chromosome abnormalities of number and structure. RESULTS FISH abnormalities were observed in 12 (80%) of 15 patients with pancreatic cancer: 5 of 5 patients with acinar cell carcinoma, 5 of 5 patients with ductal adenocarcinoma, and 2 (40%) of 5 patients with islet cell carcinoma. All 3 specimens of pancreatic tissue without neoplasia had normal FISH results. Gains of CTNNB1 due to trisomy 3 occurred in each tumor with acinar cell carcinoma but in none of the other tumors in this study. FISH abnormalities of all other cancer genes studied were observed in all forms of pancreatic tumors in this investigation. CONCLUSION FISH abnormalities of CTNNB1 due to trisomy 3 were observed only in acinar cell carcinoma. FISH abnormalities of genes implicated in familial cancer, tumor progression, and the 5-fluorouracil pathway were common but were not associated with specific types of pancreatic cancer.