Dewald Gordon W, Smyrk Thomas C, Thorland Erik C, McWilliams Robert R, Van Dyke Daniel L, Keefe Jeannette G, Belongie Kimberly J, Smoley Stephanie A, Knutson Darlene L, Fink Stephanie R, Wiktor Anne E, Petersen Gloria M
Division of Laboratory Genetics, Mayo Clinic, Rochester, MN 55905, USA.
Mayo Clin Proc. 2009 Sep;84(9):801-10. doi: 10.4065/84.9.801.
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.
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.
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.
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.
运用荧光原位杂交技术（FISH）观察胰腺腺泡细胞癌、导管腺癌及胰岛细胞癌间期细胞核中的基因异常情况（间期FISH）。
在2007年4月4日至2008年12月4日期间，运用间期FISH技术对从梅奥诊所胰腺研究生物样本库中选取的18例患者的石蜡包埋组织样本进行研究，这些患者确诊为腺泡细胞癌、导管腺癌、胰岛细胞癌或无肿瘤迹象的胰腺组织。FISH探针用于检测APC（所有基因符号的扩展请见文章末尾词汇表）、BRCA2、CTNNB1、EGFR、ERBB2、CDKN2A、TP53、TYMP和TYMS的染色体位点。这些FISH探针与对照探针一同使用，以区分各种数量和结构的染色体异常。
15例胰腺癌患者中有12例（80%）观察到FISH异常：5例腺泡细胞癌患者中有5例，5例导管腺癌患者中有5例，5例胰岛细胞癌患者中有2例（40%）。所有3例无肿瘤的胰腺组织样本FISH结果均正常。在每例腺泡细胞癌肿瘤中均出现因3号染色体三体导致的CTNNB1基因增益，但本研究中的其他肿瘤均未出现。在本次研究的所有类型胰腺肿瘤中均观察到所研究的所有其他癌症基因的FISH异常。
仅在腺泡细胞癌中观察到因3号染色体三体导致的CTNNB1基因FISH异常。涉及家族性癌症、肿瘤进展及5-氟尿嘧啶途径的基因FISH异常较为常见，但与特定类型的胰腺癌无关。
