Intraductal papillary mucinous neoplasm of the pancreas with loss of mismatch repair in a patient with Lynch syndrome.
Intraductal papillary mucinous neoplasm of the pancreas with loss of mismatch repair in a patient with Lynch syndrome.
复制标题
DOI：
10.1097/pas.0b013e3181882c3d
复制
发表时间：
2009-02
期刊：
影响因子：
--
通讯作者：
Syngal S
中科院分区：
文献类型：
--
作者：
Sparr JA;Bandipalliam P;Redston MS;Syngal S
胰腺导管内乳头状黏液性肿瘤是一种癌前病变，可进展为癌。本病例报告描述了一名61岁的女性，有多种癌症的病史，并证实了MSH2的生殖系突变，MSH2是一种导致林奇综合征的错配修复基因，她也被发现患有胰腺IPMN。林奇综合征的表型表现包括结肠的多发性腺瘤和腺癌以及其他几种林奇综合征相关的癌症。患者的结肠腺癌和胰腺IPMN显示出相同的免疫组化染色特征，MSH2和MSH6蛋白表达缺失以及高水平的微卫星不稳定性。结肠腺癌和IPMN的免疫组化染色和微卫星不稳定性模式提供了强有力的证据，支持考虑IPMN作为林奇综合征中发现的病变谱的一部分。
Intraductal papillary mucinous neoplasm (IPMN) of the pancreas is a precancerous lesion with a well-described progression to carcinoma. This case report describes a 61-year-old woman with a history significant for multiple cancers and a confirmed germline mutation of MSH2, a mismatch repair gene responsible for Lynch syndrome, who was also found to have an IPMN of the pancreas. Phenotypic manifestations of Lynch syndrome in this patient included multiple adenomas and adenocarcinomas of the colon as well as several other Lynch syndrome-associated cancers. The patient’s adenocarcinoma of the colon and IPMN of the pancreas showed identical immunohistochemical staining profiles with loss of expression of MSH2 and MSH6 proteins as well as high levels of microsatellite instability. The immunohistochemical staining and microsatellite instability patterns of the adenocarcinoma of the colon and IPMN gives strong evidence to support the consideration of IPMN as part of the spectrum of lesions found in Lynch syndrome.