Banville Niamh, Geraghty Robert, Fox Edward, Leahy Dermot T, Green Andrew, Keegan Denise, Geoghegan Justin, O'Donoghue Diarmuid, Hyland John, Sheahan Kieran
Centre for Colorectal Disease, St Vincent's University Hospital, Dublin, Ireland.
Hum Pathol. 2006 Nov;37(11):1498-502. doi: 10.1016/j.humpath.2006.06.024. Epub 2006 Sep 25.
Pancreatic adenocarcinoma has been reported in kindreds with hereditary nonpolyposis colorectal cancer (HNPCC). Medullary carcinoma of the pancreas is a recently described rare variant of pancreatic adenocarcinoma. We describe a man with colorectal carcinoma who subsequently developed pancreatic medullary carcinoma. The tumor displayed microsatellite instability and loss of expression of the mismatch repair proteins MSH2 and MSH6. Mutational analysis of the mismatch repair genes MLH1 and MSH2 demonstrated a pathogenic nonsense mutation within the MSH2 gene, which is consistent with a diagnosis of HNPCC. This report adds support to an association between HNPCC and pancreatic adenocarcinoma displaying the medullary phenotype, suggesting that medullary features in a pancreatic carcinoma may point toward a genetic cancer predisposition. To our knowledge, this is the first reported case of medullary carcinoma of the pancreas in a patient with HNPCC due to a mutation of the MSH2 gene.
遗传性非息肉病性结直肠癌（HNPCC）家系中曾有胰腺腺癌的报道。胰腺髓样癌是最近描述的一种罕见的胰腺腺癌变体。我们报告一例患有结直肠癌的男性，随后发展为胰腺髓样癌。肿瘤表现出微卫星不稳定性以及错配修复蛋白MSH2和MSH6表达缺失。错配修复基因MLH1和MSH2的突变分析显示MSH2基因内存在致病性无义突变，这与HNPCC的诊断一致。本报告进一步支持了HNPCC与表现为髓样表型的胰腺腺癌之间的关联，提示胰腺癌中的髓样特征可能指向遗传性癌症易感性。据我们所知，这是首例因MSH2基因突变导致HNPCC患者发生胰腺髓样癌的报道。
