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76个中国人遗传性非息肉病性大肠癌家系hMLH1和hMSH2基因突变规律研究 被引量:3
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作者 付蕾 盛剑秋 +8 位作者 孙自勤 韩敏 黄继胜 牧宏 韩文良 牛宏 李爱琴 武子涛 李世荣 《胃肠病学和肝病学杂志》 CAS 2007年第5期459-461,共3页
关键词 遗传性非息肉性结直肠肿瘤 突变 HMLH1基因 HMSH2基因
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艾滋病合并遗传性非息肉病性结直肠癌综合征1例报道 被引量:1
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作者 孙培龙 李冰 叶啟发 《中国现代手术学杂志》 2012年第1期80-80,66,共2页
遗传性非息肉病性结直肠癌综合征(hereditary nonpolyposis colorectal cancer,HNPCC)报道少见,艾滋病(acquired immune deficiency syndrome,AIDS)合并HNPCC更容易误诊。本文对1例AIDS合并HNPCC进行了报道。
关键词 结直肠肿瘤 遗传性非息肉 获得性免疫缺陷综合征
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中国东北地区遗传性非息肉病性结直肠癌家系肠外肿瘤谱特点分析 被引量:4
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作者 李晓霞 唐元新 +4 位作者 孙公平 李鑫 赵萌 闫一飞 孟金 《中国普外基础与临床杂志》 CAS 2012年第3期288-291,共4页
目的探讨东北地区遗传性非息肉病性结直肠癌(HNPCC)家系肠外肿瘤谱的特点。方法对登记的85个严格符合Amsterdam标准Ⅱ的HNPCC家系肠外肿瘤谱特点进行回顾性分析。结果 85个家系中,肿瘤患者509例,原发癌灶589例次,其中结肠癌219例,直肠... 目的探讨东北地区遗传性非息肉病性结直肠癌(HNPCC)家系肠外肿瘤谱的特点。方法对登记的85个严格符合Amsterdam标准Ⅱ的HNPCC家系肠外肿瘤谱特点进行回顾性分析。结果 85个家系中,肿瘤患者509例,原发癌灶589例次,其中结肠癌219例,直肠癌91例,肠外肿瘤279例,肠外肿瘤最常见为肺癌。结论肠外肿瘤是HNPCC家系肿瘤谱的重要组成部分,东北地区常见的肠外肿瘤依次为肺癌、胃癌、子宫内膜癌、肝癌和食管癌。 展开更多
关键词 遗传性非息肉性结直肠肿瘤 肠外肿瘤 特点
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中国部分地区结直肠癌遗传易感性与遗传性非息肉病性结直肠癌流行状况分析 被引量:12
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作者 张渊智 盛剑秋 +1 位作者 李世荣 武子涛 《中华医学杂志》 CAS CSCD 北大核心 2005年第42期2995-3000,共6页
目的了解结直肠癌患者的遗传易感性与结直肠癌人群中遗传性非息肉病性结直肠癌(HNPCC)的流行状况。方法结直肠癌患者分为两部分:第一部分为作者连续调查的结直肠癌患者,第二部分来源于近年来公开发表的有关中国人HNPCC发病率的文献。采... 目的了解结直肠癌患者的遗传易感性与结直肠癌人群中遗传性非息肉病性结直肠癌(HNPCC)的流行状况。方法结直肠癌患者分为两部分:第一部分为作者连续调查的结直肠癌患者,第二部分来源于近年来公开发表的有关中国人HNPCC发病率的文献。采用阿姆斯特丹标准Ⅰ、Ⅱ和日本标准等诊断HNPCC。结果17.2%的患者具有恶性肿瘤遗传易感性,5.2%的患者具有结直肠癌遗传易感性;多原发恶性肿瘤、多原发结直肠癌等分别占13.1%、10.1%;多原发恶性肿瘤(P=0.001)、多原发结直肠癌(P=0.000)等的发生均与恶性肿瘤家族史相关;低龄结直肠癌(≤50岁)患者占21.4%,其发生与恶性肿瘤家族史(P=0.000)、结直肠癌家族史(P=0.000)等均呈密切相关;符合阿姆斯特丹标准Ⅰ、Ⅱ和日本标准等HNPCC的检出率分别为1.24%、2.15%和2.93%,南、北地区间的差异没有统计学意义(P>0.05)。结论恶性肿瘤家族史、多原发恶性肿瘤和低龄结直肠癌(≤50岁)是3种恶性肿瘤及结直肠癌遗传易感性的临床标志。多原发恶性肿瘤、低龄结直肠癌等与恶性肿瘤家族史相关。我国HNPCC的流行率与西方国家相当。 展开更多
关键词 结肠直肠肿瘤 遗传易感性 结肠直肠肿瘤 遗传性非息肉 流行
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遗传性非息肉病性结直肠癌家族多原发癌的特点 被引量:15
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作者 金黑鹰 崔龙 +4 位作者 孟荣贵 喻德洪 阎于悌 徐洪莲 刘飞 《中华胃肠外科杂志》 CAS 2001年第3期165-166,共2页
Objective To study the clinicopathological fe atures of the multiple primary cance r in Chinese hereditary nonpolyposis colorectal cancer(HNPCC).Methods Thirty-two kindreds with HNPCC were registered and followed up.C... Objective To study the clinicopathological fe atures of the multiple primary cance r in Chinese hereditary nonpolyposis colorectal cancer(HNPCC).Methods Thirty-two kindreds with HNPCC were registered and followed up.Clinical data were analyzed.Results Among 91cases of 32HNPCC kindreds,10cases from 9kindreds developed multiple metachronous prim ary cancers and no synchronous cancers were found.Eight cases of ab ove 10cases were from typical HNPCC f amilies.The initial cancer presented as colorectal cancer in 9p atients.The second tumor presented as colonic cancer in 3patients,hepatic cancer.oophoroma and endom etrial carcinoma in 2patients respectively,and cereglioma in one patient.The second tumor occurred a fter 60~108mouths(mean 68mouths).Conclusions The morbidity of the multiple primary cancer of Chi nese HNPCC kindreds increases.HNPC C patients should be followed up strictly in order to discover multip le primary cancer earlier and get better outcome. 展开更多
关键词 遗传性非息肉性结直肠肿瘤 多原发肿瘤 HNPCC 分子遗传学 错配修复基因
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中国人遗传性非息肉病性结直肠癌hMLH1与hMSH2基因的种系突变研究 被引量:14
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作者 金黑鹰 崔龙 +5 位作者 孟荣贵 程慧玉 高军 闫于悌 徐洪莲 喻德洪 《中华胃肠外科杂志》 CAS 2002年第2期126-129,共4页
目的探讨中国人遗传性非息肉病性结直肠癌(HNPCC)患者hMLH1与hMSH2基因的种系突变特点。方法对诊治的6个HNPCC家系的先证者用聚合酶链反应(PCR)的方法扩增其hMLH1及hMSH2的35个外显子,SSCP方法检测其变异,对可疑突变者进行自动测序以确... 目的探讨中国人遗传性非息肉病性结直肠癌(HNPCC)患者hMLH1与hMSH2基因的种系突变特点。方法对诊治的6个HNPCC家系的先证者用聚合酶链反应(PCR)的方法扩增其hMLH1及hMSH2的35个外显子,SSCP方法检测其变异,对可疑突变者进行自动测序以确定突变类型。结果6例先证者SSCP检测在3例患者中发现4处异常条带,自动测序证实hMSH211外显子有1处插入突变和1处错义突变、13外显子有1处错义突变,1例在hMLH118外显子及hMSH215外显子均有插入突变。结论中国人HNPCC的错配修复基因突变以hMSH2为主,插入造成的移码突变和错义突变仍为主要病理突变类型。 展开更多
关键词 遗传性非息肉性结肠直肠肿瘤 基因突变 错配修复 种系突变 分子遗传学
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中国人遗传性非息肉病性结直肠癌MSH6基因胚系突变的测序研究 被引量:1
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作者 颜士岩 周晓燕 +8 位作者 蔡三军 于宝华 张太明 李小妹 陆永明 周恒花 莫善兢 杜祥 施达仁 《中华医学遗传学杂志》 CAS CSCD 北大核心 2007年第6期640-645,共6页
目的探讨中国人遗传性非息肉病性结直肠癌(hereditary nonpolyposis colorectal cancer,HNPCC)家系中MSH6基因胚系突变。方法采用PCR-直接测序的方法检测39个无胚系MSH2及MLH1基因突变、符合不同临床标准的中国人HNPCC家系先证者MSH6... 目的探讨中国人遗传性非息肉病性结直肠癌(hereditary nonpolyposis colorectal cancer,HNPCC)家系中MSH6基因胚系突变。方法采用PCR-直接测序的方法检测39个无胚系MSH2及MLH1基因突变、符合不同临床标准的中国人HNPCC家系先证者MSH6基因各外显子胚系突变;对137名正常人胚系基因组DNA进行错义突变相应外显子的测序分析。应用Envision二步法检测有突变的先证者肿瘤组织MSH6蛋白表达。结果在39个HNPCC先证者中共发现6个MSH6基因的胚系突变,分别位于第4、6、9和第10外显子;突变类型为4个错义突变、1个无义突变、1个剪接区的插入突变;对4个错义突变的相应外显子的测序分析显示:137名正常人胚系基因组DNA5例具有第6外显子1163密码子处的c.3488A〉T的错义突变,约占3.65%(5/137),为单核苷酸多态性(single nucleotide polymorphism,SNP);其余错义突变在正常人群中均未发现。在6例有MSH6基因胚系突变家系的肿瘤组织中免疫组化染色除1例为SNP的肿瘤组织MSH6蛋白阳性表达外,其余均为阴性表达。经过查询国际HNPCC突变数据库及SNP数据库证实上述突变中5个为国际上尚未报道的病理性突变,1个为新发现的SNP。结论MSH6基因胚系突变在符合不同临床标准的中国人HNPCC中均起一定作用,对无MSH2及MLH1基因胚系突变的先证者行MSH6基因胚系突变的测序分析对确诊HNPCC家系是必要的。 展开更多
关键词 MSH6基因 遗传性非息肉性结直肠肿瘤 DNA突变分析
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遗传性非息肉病性结直肠癌家系先证者胚系MSH6基因单核苷酸多态性研究
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作者 颜士岩 周晓燕 +3 位作者 杜祥 于宝华 蔡三军 施达仁 《中华肿瘤杂志》 CAS CSCD 北大核心 2008年第10期770-771,共2页
遗传性非息肉病性结直肠癌(hereditary nonpolyposis colorectal cancer,HNPCC)是一种由错配修复基因突变引起的常染色体显性遗传病,其临床发病率占全部结直肠癌的5%~10%。约10%左右的HNPCC与MSH6基因的胚系突变相关。为准确判... 遗传性非息肉病性结直肠癌(hereditary nonpolyposis colorectal cancer,HNPCC)是一种由错配修复基因突变引起的常染色体显性遗传病,其临床发病率占全部结直肠癌的5%~10%。约10%左右的HNPCC与MSH6基因的胚系突变相关。为准确判断胚系MSH6基因突变的意义,首先必须判定该特定核苷酸位置上所发生的转换、颠换、插入或缺失等变化是否为单核苷酸多态性(single nucleotide polymorphism,SNP),这对于突变意义的判定, 展开更多
关键词 MSH6 结直肠肿瘤 遗传性非息肉 SNP 突变分析
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Hereditary non-polyposis colorectal cancer: The rise and fall of a confusing term 被引量:24
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作者 Jeremy R Jass 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第31期4943-4950,共8页
The term Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is a poor descriptor of the syndrome described by Lynch. Over the last decade, the term has been applied to heterogeneous groups of families meeting limite... The term Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is a poor descriptor of the syndrome described by Lynch. Over the last decade, the term has been applied to heterogeneous groups of families meeting limited clinical criteria, for example the Amsterdam criteria. It is now apparent that not all Amsterdam criteria-positive families have the Lynch syndrome. The term HNPCC has also been applied to clinical scenarios in which CRCs with DNA microsateUite instability are diagnosed but in which there is no vertical transmission of an altered DNA mismatch repair (MMR) gene. A term that has multiple, mutually incompatible meanings is highly problematic, particularly when it may influence the management of an individual family. The Lynch syndrome is best understood as a hereditary predisposition to malignancy that is explained by a germline mutation in a DNA MMR gene. The diagnosis does not depend in an absolute sense on any particular family pedigree structure or age of onset of malignancy. Families with a strong family history of colorectal cancer that do not have Lynch syndrome have been grouped as ‘Familial Colorectal Cancer Type-X'. The first step in characterizing these cancer families is to distinguish them from Lynch syndrome. The term HNPCC no longer serves any useful purpose and should be phased out. 展开更多
关键词 Hereditary Non-Polyposis Colorectal Cancer COLON CANCER HEREDITARY
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Defensin expression in chronic pouchitis in patients with ulcerative colitis or familial adenomatous polyposis coli 被引量:8
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作者 Karlheinz Kiehne Gabriele Brunke +3 位作者 Franziska Wegner Tomas Banasiewicz Ulrich R F lsch Karl-Heinz Herzig 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第7期1056-1062,共7页
AIM. Pouchitis develops in ileoanal pouches in up to 50% of patients with ulcerative colitis during the first 10 years after pouch surgery while being rare in patients after proctocolectomy for familial adenomatous po... AIM. Pouchitis develops in ileoanal pouches in up to 50% of patients with ulcerative colitis during the first 10 years after pouch surgery while being rare in patients after proctocolectomy for familial adenomatous polyposis coil (FAP) syndrome. Defensins are major components of the innate immune system and play a significant role in gastrointestinal microbial homeostasis. Pouch defensin and cytokine expression were correlated with states of pouch inflammation to study their role in pouchitis.METHODS: Patients with ulcerative colitis and FAP syndrome were stratified into groups with pouches after surgery, pouches without or with pouchitis. Biopsies from terminal ileum from a healthy intestine or from normal terminal ileum of patients with ulcerative colitis served as controls, mRNA from pouches and controls was analysed for defensin and cytokine expression.RESULTS: Expression of defensins was increased in all pouches immediately after surgery, compared to ileum of controls. Initially, pouches in ulcerative colitis revealed higher defensin expression than FAP pouches. Defensin expression declined in both patient groups and increased again slightly in pouchitis in patients with ulcerative colitis. FAP pouches without pouchitis had strong expression of β-defensin hBD-1, while all other defensins remained at low levels. Cytokine expression in ulcerative colitis pouches was high, while FAP pouches showed moderately elevated cytokines only after surgery.CONCLUSION: Development of pouchitis correlates with decreased defensin expression in ulcerative colitis in addition to high expression of cytokines. The low incidence of pouchitis in FAP pouches correlates with increased expression of hBD-1 β- defensin in association with low cytokine levels. 展开更多
关键词 Innate immunity Ulcerative colitis DEFENSINS POUCHITIS CYTOKINES
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Pre-operative factors that can predict neoplastic polypoid lesions of the gallbladder 被引量:28
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作者 Byung Hyo Cha Jin-Hyeok Hwang +4 位作者 Sang Hyub Lee Jang Eon Kim Jai Young Cho Haeryoung Kim So Yeon Kim 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第17期2216-2222,共7页
AIM:To investigate the preoperative factors that can predict neoplastic polypoid lesions of the gallbladder(PLGs) as well as malignant PLGs.METHODS:A retrospective analysis was conducted on the 210 consecutively enrol... AIM:To investigate the preoperative factors that can predict neoplastic polypoid lesions of the gallbladder(PLGs) as well as malignant PLGs.METHODS:A retrospective analysis was conducted on the 210 consecutively enrolled patients who underwent cholecystectomy due to a PLG larger than 10 mm,as was determined by preoperative trans-abdominal ultrasonography or endoscopic ultrasonography.We ana-lyzed the medical,laboratory,radiologic data and the pathologic results.RESULTS:In 210 cases,146 had non-neoplastic polyps(69.5%) and 64 cases were neoplastic polyps(30.5%).An older age(≥ 65 years),the presence of diabetes mellitus(DM) and the size of polyp(≥ 15 mm) were revealed to be independent predictive variables for neoplastic polyps with odd ratios(OR) of 2.27(P = 0.044),2.64(P = 0.021) and 4.94(P < 0.01),respectively.Among the neoplastic PLGs,an older age(≥ 65 years),the presence of DM and polyp size(≥ 15 mm) were associated with malignancy with ORs of 4.97(P = 0.005),6.13(P = 0.001) and 20.55(P < 0.001),respectively.CONCLUSION:Among patients with PLGs larger than 10 mm in size,higher risk groups such as elderly patients more than 65 years old,those with DM or a large polyp size(≥ 15 mm) should be managed by cholecystectomy. 展开更多
关键词 GALLBLADDER POLYP NEOPLASTIC CHOLECYSTECTOMY Diabetes Pre-operative factors
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Peutz—Jeghers综合征1例
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作者 赵加维 周群 杨品芳 《大理学院学报(综合版)》 CAS 2003年第3期91-91,共1页
关键词 PEUTZ-JEGHERS综合征 家族性非肿瘤息肉 理特征 黑色素 错构瘤 常染色体显性遗传 结肠息肉
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Capsule endoscopy 被引量:8
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作者 Miguel Muoz-Navas 《World Journal of Gastroenterology》 SCIE CAS CSCD 2009年第13期1584-1586,共3页
Capsule endoscopy(CE) is a simple,safe,non-invasive,reliable technique,well accepted and tolerated by the patients,which allows complete exploration of the small intestine.The advent of CE in 2000 has dramatically cha... Capsule endoscopy(CE) is a simple,safe,non-invasive,reliable technique,well accepted and tolerated by the patients,which allows complete exploration of the small intestine.The advent of CE in 2000 has dramatically changed the diagnosis and management of many diseases of the small intestine,such as obscure gastrointestinal bleeding,Crohn's disease,small bowel tumors,polyposis syndromes,etc.CE has become the gold standard for the diagnosis of most diseases of the small bowel.Lately this technique has also been used for esophageal and colonic diseases. 展开更多
关键词 Capsule endoscopy Small intestine Gastrointestinal hemorrhage Crohn's disease Gastro-intestinal neoplasms Intestinal polyposis
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Serrated neoplasia of the colorectum 被引量:4
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作者 Nathan T Harvey Andrew Ruszkiewicz 《World Journal of Gastroenterology》 SCIE CAS CSCD 2007年第28期3792-3798,共7页
Serrated polyps of the colorectum form a group of related lesions which include aberrant crypt foci (ACF), conventional hyperplastic polyps, mixed (admixed) polyps, serrated adenomas and sessile serrated adenomas. In ... Serrated polyps of the colorectum form a group of related lesions which include aberrant crypt foci (ACF), conventional hyperplastic polyps, mixed (admixed) polyps, serrated adenomas and sessile serrated adenomas. In recent years the molecular differences between these morphologically similar lesions have been highlighted, and their differing biological potential has been realised. In particular, the sessile serrated adenoma has become recognised as the precursor lesion to a group of sporadic colorectal carcinomas characterised by morphological and molecular features distinct from conventional adenomas. These recent findings have challenged the long held paradigm that all colorectal carcinomas arise via the traditional adenoma-carcinoma sequence. In addition, they present a major challenge for the early detection and management of colorectal cancer, which is no longer regarded as a homogeneous entity. 展开更多
关键词 Serrated adenoma Serrated neoplasia Serrated adenocarcinoma Hyperplastic polyps Microsatellite instability
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Hyperplastic polyposis associated with two asynchronous colon cancers
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作者 Masaya Kurobe Kuniko Abe +6 位作者 Naoe Kinoshita Masanobu Anami Hirotaka Tokai Yoshinori Ryu Chun Yang Wen Takashi Kanematsu Tomayoshi Hayashi 《World Journal of Gastroenterology》 SCIE CAS CSCD 2007年第23期3255-3258,共4页
We report a patient with hyperplastic polyposis who had two asynchronous colon cancers, a combined adenoma-hyperplastic polyp, a serrated adenoma, and tubular adenomas. Hyperplastic polyposis is thought to be a precan... We report a patient with hyperplastic polyposis who had two asynchronous colon cancers, a combined adenoma-hyperplastic polyp, a serrated adenoma, and tubular adenomas. Hyperplastic polyposis is thought to be a precancerous lesion; and adenocarcinoma arises from hyperplastic polyposis through the hyperplastic polyp-adenoma-carcinoma sequence. Most polyps in patients with hyperplastic polyposis present as bland- looking hyperplastic polyps, which are regarded as non- neoplastic lesions; however, the risk of malignancy should not be underestimated. In patients with multiple hyperplastic polyps, hyperplastic polyposis should be identified and followed up carefully in order to detect malignant transformation in the early stage. 展开更多
关键词 Hyperplastic polyposis Hyperplastic polyp ADENOCARCINOMA Serrated adenoma Multiple cancer
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代谢酶NAT2多态性与大肠息肉及腺瘤的复发 被引量:7
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作者 郑树 刘希永 +6 位作者 曹江 Rebecca A.Nelson 董琦 方永明 William Bennett 蔡善荣 张苏展 《中华医学杂志》 CAS CSCD 北大核心 2001年第15期907-909,共3页
目的 研究代谢酶基因NAT2多态性与大肠息肉及腺瘤复发的关系 ,探讨其与大肠癌遗传易感性。方法 在 1980年 ,建立了 40 76例大肠癌高危人群队列 ,这 40 76例均有大肠腺瘤或息肉史。从高危人群中随机抽取 5 2例息肉、腺瘤复发 2次以上... 目的 研究代谢酶基因NAT2多态性与大肠息肉及腺瘤复发的关系 ,探讨其与大肠癌遗传易感性。方法 在 1980年 ,建立了 40 76例大肠癌高危人群队列 ,这 40 76例均有大肠腺瘤或息肉史。从高危人群中随机抽取 5 2例息肉、腺瘤复发 2次以上者为复发组 ,另抽取 5 2例无复发者为对照 ,从抗凝外周血白细胞中提取DNA ,采用聚合酶链反应 限制性内切酶片段长度多态性 (PCR RFLP)方法分析 ,比较NAT2的多态性分布差异。结果 NAT2野生型Wt/Wt频率在无复发组 (17/ 5 2 ,32 7% )明显高于复发组 (8/ 5 2 ,15 .4% ) ,杂合型在复发组频率为 40 / 5 2 (76 .9% ) ,与无复发组频率30 / 5 2 (5 7.7% )比较 ,差异均有显著意义 (P <0 .0 5 )。以Wt/Wt基因型的危险度 (OR)为 1,则Wt/M 基因型的OR为 2 .96 ,95 %CI为 1.0 91~ 8.0 0 9,M /M 基因型的OR为 2 .12 5 ,95 %CI为 0 .6 6 6~6 781。在复发与无复发组中 ,未发现NAT2快速与慢速酶的差异。结论 NAT2野生型 (Wt/Wt)可能是大肠腺瘤复发的保护因素 。 展开更多
关键词 结肠肿瘤 肿瘤息肉病 结肠 NAT2 多态性 限制性片段长度
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