结直肠传统锯齿状腺瘤的临床病理和遗传学特征。
Clinicopathologic and genetic characterization of traditional serrated adenomas of the colon.
机构信息
Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA.
出版信息
Am J Clin Pathol. 2012 Sep;138(3):356-66. doi: 10.1309/AJCPVT7LC4CRPZSK.
Abstract
Traditional serrated adenomas (TSAs) are a type of colorectal polyp with neoplastic potential. Immunohistochemical analysis and sequencing were performed on 24 TSAs from 23 patients to characterize the molecular genetics of TSAs. Abnormal Ki-67 and p53 labeling were observed in 7 (29%) of 24 and 6 (25%) of 24 TSAs, respectively; both types were significantly associated with the presence of conventional epithelial dysplasia (P = .0005 and P = .0001, respectively). Activating KRAS mutation was identified in 11 TSAs (46%) and was mutually exclusive with activating BRAF mutations, which were seen in 7 TSAs (29%). Abnormal p53 nuclear labeling in a TSA was significantly associated with BRAF mutation status (P = .04), whereas no relationship was found for β-catenin labeling patterns. The overall morphologic features of TSA do not correlate with the genetic status of the KRAS and BRAF genes. However, conventional epithelial dysplasia and abnormal p53 labeling in a TSA are seen more often in the setting of BRAF mutation.
摘要
传统锯齿状腺瘤（TSA）是一种具有肿瘤潜能的结直肠息肉。对 23 例患者的 24 个 TSA 进行了免疫组织化学分析和测序，以研究 TSA 的分子遗传学。分别有 7 个（29%）和 6 个（25%）的 TSA 出现异常 Ki-67 和 p53 标记；两种情况均与常规上皮异型增生的存在显著相关（P =.0005 和 P =.0001）。在 11 个 TSA（46%）中发现了激活的 KRAS 突变，并且与激活的 BRAF 突变相互排斥，在 7 个 TSA（29%）中发现了 BRAF 突变。TSA 中的异常 p53 核标记与 BRAF 突变状态显著相关（P =.04），而β-连环蛋白标记模式没有关系。TSA 的整体形态特征与 KRAS 和 BRAF 基因的遗传状态无关。然而，在 BRAF 突变的情况下，TSA 中更常见的是常规上皮异型增生和异常的 p53 标记。
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