Suppr超能文献

韩国结直肠增生性息肉和无蒂锯齿状腺瘤/息肉的分子特征。

Molecular features of colorectal hyperplastic polyps and sessile serrated adenoma/polyps from Korea.

机构信息

Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

出版信息

Am J Surg Pathol. 2011 Sep;35(9):1274-86. doi: 10.1097/PAS.0b013e318224cd2e.

Abstract

Abundant recent data suggest that sessile serrated adenoma/polyp (SSA/P) is an early precursor lesion in the serrated pathway of carcinogenesis. It is believed that SSA/Ps develop cancer by an SSA/P-dysplasia-carcinoma sequence. Hyperplastic polyps (HPs) share some histologic and molecular characteristics with SSA/P, but it is unclear whether SSA/Ps are derived from HPs or whether they develop by a different pathogenetic pathway. Previous studies have shown that serrated polyps from Korean patients show different prevalence rates of certain molecular abnormalities compared with similar lesions from American patients, and this suggests that lifestyle and dietary factors may influence the serrated neoplasia pathway. The purpose of this study was to evaluate the molecular features of HPs and SSA/Ps, the latter both with and without dysplasia, from Korean patients and to compare the findings with similar lesions from American patients. One hundred and eleven serrated polyps, consisting of 45 HPs (30 microvesicular, 11 goblet cell, 4 mucin depleted) and 56 SSA/Ps (36 with dysplasia, 20 without dysplasia), were retrieved from the pathology files of a large medical center in Korea and 38 SSA/P from American patients were evaluated for BRAF and KRAS mutations, microsatellite instability, and hypermethylation of O6-methylguanine-DNA methyltransferase (MGMT), hMLH1, adenomatous polyposis coli (APC), p16, methylated in tumor-1 (MINT-1), MINT2, and MINT31. Methylation of hMLH1 was performed using 2 different sets of primers. Twenty-three conventional adenomas from Korean patients were included as controls. The data were compared between polyp subtypes and between polyps in the right versus the left colon. With regard to HP, KRAS mutations were present in 31.1% of polyps and BRAF mutations in 46.7% of polyps. KRAS mutations were significantly more common in goblet cell HP and BRAF in microvesicular HP (MVHP). Methylation of MGMT, hMLH1, APC, p16, MINT1, MINT2, and MINT31 were present in 42.2%, 64.4% (and 24.4%), 37.8%, 60%, 68.9%, 51.1%, and 60% of HPs. CpG island methylator phenotype high was noted in 60% of HPs. Methylation of hMLH1, p16, MINT2, and MINT31 were more frequent in MVHPs compared with other types of HPs. In contrast, SSA/Ps showed KRAS and BRAF mutations in 12.5% and 60.7% of cases, respectively. Methylation of all tumor-related genes, except hMLH1 (23.2% using 1 type of primers) and APC (37.5%), occurred in >50% of lesions, and CpG island methylator phenotype (CIMP) high was noted in 76.8% of cases. None of the molecular findings were significantly more common in SSA/P with, versus those without, dysplasia, but only 2 of the 36 polyps with dysplasia were of the conventional adenomatous type; the remainder (34 of 36) was of the serrated type. Nevertheless, both SSA/P with conventional adenomatous dysplasia showed methylation of MGMT, APC, MINT1, and MINT31 and were CIMP high. BRAF mutations, methylation of most tumor related genes, and CIMP high occurred more frequently in HPs and SSA/Ps in the right colon, compared with the left colon. In fact, no significant differences were observed between HPs and SSPs of the right colon and HPs and SSA/Ps from the left colon. Furthermore, compared with American patients, Korean male individuals were affected more frequently than female individuals, and both BRAF mutations and hMLH1 methylation were less frequent in the latter compared with the former. We conclude that HPs and SSA/Ps in Korean patients share some, but not all, clinical and molecular characteristics to those that occur in Americans. The data support the theory that the right and left colon are biologically different with regard to susceptibility to serrated cancer, and that anatomic location (right vs. left) may be a more significant risk factor of progression than the histologic type of polyp. Our data also support the theory that right-sided MVHPs may be a precursor to SSA/P.

摘要

大量最近的数据表明,无蒂锯齿状腺瘤/息肉(SSA/P)是锯齿状肿瘤发生途径中的早期前体病变。人们认为 SSA/Ps 通过 SSA/P-发育不良-癌序列发展为癌症。增生性息肉(HPs)与 SSA/P 具有一些组织学和分子特征,但尚不清楚 SSA/Ps 是否来源于 HPs,或者它们是否通过不同的发病途径发展。先前的研究表明,与美国患者类似的病变相比,韩国患者的锯齿状息肉中某些分子异常的患病率存在差异,这表明生活方式和饮食因素可能会影响锯齿状肿瘤途径。本研究的目的是评估韩国患者的 HPs 和 SSA/Ps(包括有和无发育不良的)的分子特征,并将其与美国患者的类似病变进行比较。从韩国一家大型医疗中心的病理档案中检索到 111 个锯齿状息肉,包括 45 个 HPs(30 个微泡,11 个杯状细胞,4 个粘蛋白缺失)和 56 个 SSA/Ps(36 个有发育不良,20 个无发育不良),并评估了来自美国的 38 个 SSA/P 的 BRAF 和 KRAS 突变、微卫星不稳定性和 O6-甲基鸟嘌呤-DNA 甲基转移酶(MGMT)、hMLH1、腺瘤性息肉病基因(APC)、p16、甲基化肿瘤-1(MINT-1)、MINT2 和 MINT31 的 hypermethylation。使用 2 套不同的引物进行 hMLH1 的甲基化。作为对照,纳入 23 例韩国患者的常规腺瘤。将数据与息肉亚型和结肠右、左进行比较。关于 HP,KRAS 突变存在于 31.1%的息肉中,BRAF 突变存在于 46.7%的息肉中。杯状细胞 HP 中 KRAS 突变更为常见,微泡 HP 中 BRAF 更为常见(MVHP)。MGMT、hMLH1、APC、p16、MINT1、MINT2 和 MINT31 的甲基化存在于 42.2%、64.4%(和 24.4%)、37.8%、60%、68.9%、51.1%和 60%的 HPs 中。60%的 HPs 出现 CpG 岛甲基化表型高。与其他类型的 HPs 相比,MVHPs 中 hMLH1、p16、MINT2 和 MINT31 的甲基化更为常见。相比之下,SSA/Ps 分别有 12.5%和 60.7%的病例出现 KRAS 和 BRAF 突变。除了 hMLH1(使用 1 种引物为 23.2%)和 APC(37.5%)外,所有肿瘤相关基因的甲基化均发生在>50%的病变中,76.8%的病例出现 CpG 岛甲基化表型高(CIMP)。在伴有和不伴有发育不良的 SSA/P 中,没有一种分子发现更为常见,但仅有 2 例伴有发育不良的息肉为传统腺瘤性类型,其余 34 例(36 例中的 34 例)为锯齿状类型。然而,两种伴有传统腺瘤性发育不良的 SSA/P 均显示 MGMT、APC、MINT1 和 MINT31 的甲基化,并具有 CIMP 高。BRAF 突变、大多数肿瘤相关基因的甲基化和 CIMP 高在右结肠的 HPs 和 SSA/Ps 中比左结肠更为常见。事实上,在右结肠的 HPs 和 SSPs 与左结肠的 HPs 和 SSA/Ps 之间没有观察到显著差异。此外,与美国患者相比,韩国男性患者比女性患者更易受影响,后者的 BRAF 突变和 hMLH1 甲基化比前者更为常见。我们的结论是,韩国患者的 HPs 和 SSA/Ps 与美国患者的 HPs 和 SSA/Ps 具有一些但不是所有的临床和分子特征。这些数据支持这样一种理论,即右结肠和左结肠在易患锯齿状癌方面存在生物学差异,并且解剖位置(右 vs. 左)可能是比息肉组织学类型更重要的进展风险因素。我们的数据还支持这样一种理论,即右侧 MVHPs 可能是 SSA/P 的前体。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验