检索结果-南通市图书馆

mutyh-associated polyposis: Is it time to change upper gastrointestinal surveillance? A single-center case series and a literature overview

引用

World Journal of Gastrointestinal Oncology 2023年第11期15卷 1891-1899页

作者： Lupe Sanchez-Mete Lorenzo Mosciatti Marco Casadio Luigi Vittori Aline Martayan Vittoria Stigliano Gastroenterology and Digestive Endoscopy Regina Elena National Cancer InstituteIRCCSRome 00144Italy Department of Radiological Oncological and Pathological SciencesRegina Elena National Cancer InstituteIRCCSRome 00144Italy

BACKGROUND The presence of Spigelman stage(SS)IV duodenal polyposis is considered the most significant risk factor for duodenal cancer in patients with mutyh-associated polyposis(MAP).However,advanced SS disease is rarely reported in MAP patients,and no clear recommendations on small bowel(SB)surveillance have been proposed in this patient *** To research more because that case reports of duodenal cancers in MAP suggest that they may develop in the absence of advanced benign SS disease and often involve the distal portion of the *** We describe a series of MAP patients followed up at the Regina Elena National Cancer Institute of Rome(Italy).A literature overview on previously reported SB cancers in MAP is also *** We identified two(6%)SB adenocarcinomas with no previous history of duodenal *** observations,supported by literature evidence,suggest that the formula for staging duodenal polyposis and predicting risk factors for distal duodenum and jejunal cancer may need to be adjusted to take this into account rather than focusing solely on the presence or absence of SS IV *** Tip:Case reports of duodenal cancers in mutyh-associated polyposis suggest that they may develop in the absence of advanced Spigelman stage(SS)benign disease and often involve the distal portion of the *** our case series,we identified two(6%)small-bowel adenocarcinomas with no previous history of duodenal *** observations,supported by literature evidence,suggest that the formula for staging duodenal polyposis and predicting risk factors for distal duodenum and jejunal cancer should be adjusted to take into consideration the presence of SS IV disease,rather than focusing only on this *** of invasive adenocarcinoma.

关键词： mutyh-associated polyposis Duodenal adenomatosis Duodenal cancer Endoscopic management Case report

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Impaired suppressive activities of human mutyh variant proteins against oxidative mutagenesis

引用

World Journal of Gastroenterology 2012年第47期18卷 6935-6942页

作者： Kazuya Shinmura Masanori Goto Hong Tao Shun Matsuura Tomonari Matsuda Haruhiko Sugimura Department of Tumor Pathology Hamamatsu University School of MedicineShizuoka 431-3192Japan Research Center for Environmental Quality Management Kyoto UniversityShiga 520-0811Japan

AIM:To investigate the suppressive activity of mutyh variant proteins against mutations caused by oxidative lesion,8-hydroxyguanine(8OHG),in human ***:p.R154H,p.M255V,p.L360P,and p.P377L mutyh variants,which were previously found in patients with colorectal polyposis and cancer,were selected for use in this *** H1299 cancer cell lines inducibly expressing wild-type(WT) mutyh(type 2) or one of the 4 above-mentioned mutyh variants were established using the piggyBac transposon vector system,enabling the genomic integration of the transposon sequence for mutyh *** expression was examined after cumate induction using Western blotting analysis and immunofluorescence *** intracellular localization of mutyh variants tagged with FLAG was also immunofluorescently ***,the mutation frequency in the supF of the shuttle plasmid pMY189 containing a single 8OHG residue at position 159 of the supF was compared between empty vector cells and cells expressing WT mutyh or one of the 4 mutyh variants using a supF forward mutation ***:The successful establishment of human cell lines inducibly expressing WT mutyh or one of the 4 mutyh variants was concluded based on the detection of mutyh expression in these cell lines after treatment with *** of the mutyh variants and WT mutyh were localized in the nucleus,and nuclear localization was also observed for FLAG-tagged *** mutation frequency of supF was 2.2 × 10-2 in the 8OHG-containing pMY189 plasmid and 2.5 × 10-4 in WT pMY189 in empty vector cells,which was an 86-fold increase with the introduction of *** mutation frequency(4.7 × 10-3) of supF in the 8OHG-containing pMY189 plasmid in cells overexpressing WT mutyh was significantly lower than in the empty vector cells(P mutyh variant were 1.84 × 10-2,1.55 × 10-2

关键词： 8-hydroxyguanine Mutation mutyh mutyh-associated polyposis Oxidative mutagenesis supF forward mutation assay piggyBac transposon Colorectal polyposis

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Early-onset colorectal cancer:A sporadic or inherited disease?

引用

World Journal of Gastroenterology 2014年第35期20卷 12420-12430页

作者： Vittoria Stigliano Lupe Sanchez-Mete Aline Martayan Marcello Anti Division of Gastroenterology and Digestive Endoscopy Regina Elena National Cancer Institute Division of Clinical Pathology Regina Elena National Cancer Institute

Colorectal cancer is the third most common cancer diagnosed worldwide. Although epidemiology data show a marked variability around the world, its overall incidence rate shows a slow but steady decrease, mainly in developed countries. Conversely, early-onset colorectal cancer appears to display an opposite trend with an overall prevalence in United States and European Union ranging from 3.0% and 8.6%. Colorectal cancer has a substantial proportion of familial cases. In particular, early age at onset is especially suggestive of hereditary predisposition. The clinicopathological and molecular features of colorectal cancer cases show a marked heterogeneity not only between early- and late-onset cases but also within the early-onset group. Two distinct subtypes of early-onset colorectal cancers can be identified: a “sporadic” subtype, usually without family history, and an inherited subtype arising in the context of well defined hereditary syndromes. The pathogenesis of the early-onset disease is substantially well characterized in the inherited subtype, which is mainly associated to the Lynch syndrome and occasionally to other rare mendelian diseases, whereas in the “sporadic” subtype the origin of the disease may be attributed to the presence of various common/rare genetic variants, so far largely unidentified, displaying variable penetrance. These variants are thought to act cumulatively to increase the risk of colorectal cancer, and presumably to also anticipate its onset. Efforts are ongoing in the attempt to unravel the intricate genetic basis of this “sporadic” early-onset disease. A better knowledge of molecular entities and pathways may impact on family-tailored prevention and clinical management strategies.

关键词： Early-onset colorectal cancer Epidemiology Hereditary syndrome Lynch syndrome mutyh-associated polyposis

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：