遗传性非息肉病性结直肠癌

遗传性非息肉病性结直肠癌(HNPCC)是一种由错配修复(MMR)基因突变造成的常染色体显性遗传病.作为大肠癌的一个重要临床亚型,HNPCC约占全部大肠癌的5%～15%.MMR基因的种系突变和微卫星不稳定(MSI)是其分子遗传学基础.由于HNPCC的遗传病因特殊、临床病理特点突出,是目前大肠癌和遗传性肿瘤的研究热点.     

遗传性非息肉病性结直肠癌

Hereditary non-polyposis colorectal cancer(HNPCC) is an autosomal-dominantly inherited disease which is associated with germline mutations in mismatch repair(MMR) genes and microsatellite instability (MSI). As an important clinical subtype of colorectal cancer, HNPCC is accounting for 5%～15% of colorectal cancer. It' s focus research of colon cancer and hereditary tumor currently because of the special genetic etiopathogenisis and the prominent clinical pathology characteristic.     

遗传性非息肉病性结直肠癌

Hereditary non-polyposis colorectal cancer(HNPCC) is an autosomal-dominantly inherited disease which is associated with germline mutations in mismatch repair(MMR) genes and microsatellite instability (MSI). As an important clinical subtype of colorectal cancer, HNPCC is accounting for 5%～15% of colorectal cancer. It' s focus research of colon cancer and hereditary tumor currently because of the special genetic etiopathogenisis and the prominent clinical pathology characteristic.     

遗传性非息肉病性结直肠癌

Hereditary non-polyposis colorectal cancer(HNPCC) is an autosomal-dominantly inherited disease which is associated with germline mutations in mismatch repair(MMR) genes and microsatellite instability (MSI). As an important clinical subtype of colorectal cancer, HNPCC is accounting for 5%～15% of colorectal cancer. It' s focus research of colon cancer and hereditary tumor currently because of the special genetic etiopathogenisis and the prominent clinical pathology characteristic.     

遗传性非息肉病性结直肠癌

Hereditary non-polyposis colorectal cancer(HNPCC) is an autosomal-dominantly inherited disease which is associated with germline mutations in mismatch repair(MMR) genes and microsatellite instability (MSI). As an important clinical subtype of colorectal cancer, HNPCC is accounting for 5%～15% of colorectal cancer. It' s focus research of colon cancer and hereditary tumor currently because of the special genetic etiopathogenisis and the prominent clinical pathology characteristic.     

遗传性非息肉病性结直肠癌

Hereditary non-polyposis colorectal cancer(HNPCC) is an autosomal-dominantly inherited disease which is associated with germline mutations in mismatch repair(MMR) genes and microsatellite instability (MSI). As an important clinical subtype of colorectal cancer, HNPCC is accounting for 5%～15% of colorectal cancer. It' s focus research of colon cancer and hereditary tumor currently because of the special genetic etiopathogenisis and the prominent clinical pathology characteristic.     

遗传性非息肉病性结直肠癌

Hereditary non-polyposis colorectal cancer(HNPCC) is an autosomal-dominantly inherited disease which is associated with germline mutations in mismatch repair(MMR) genes and microsatellite instability (MSI). As an important clinical subtype of colorectal cancer, HNPCC is accounting for 5%～15% of colorectal cancer. It' s focus research of colon cancer and hereditary tumor currently because of the special genetic etiopathogenisis and the prominent clinical pathology characteristic.     

遗传性非息肉病性结直肠癌

Hereditary non-polyposis colorectal cancer(HNPCC) is an autosomal-dominantly inherited disease which is associated with germline mutations in mismatch repair(MMR) genes and microsatellite instability (MSI). As an important clinical subtype of colorectal cancer, HNPCC is accounting for 5%～15% of colorectal cancer. It' s focus research of colon cancer and hereditary tumor currently because of the special genetic etiopathogenisis and the prominent clinical pathology characteristic.     

遗传性非息肉病性结直肠癌

Hereditary non-polyposis colorectal cancer(HNPCC) is an autosomal-dominantly inherited disease which is associated with germline mutations in mismatch repair(MMR) genes and microsatellite instability (MSI). As an important clinical subtype of colorectal cancer, HNPCC is accounting for 5%～15% of colorectal cancer. It' s focus research of colon cancer and hereditary tumor currently because of the special genetic etiopathogenisis and the prominent clinical pathology characteristic.     

遗传性非息肉病性结直肠癌

Hereditary non-polyposis colorectal cancer(HNPCC) is an autosomal-dominantly inherited disease which is associated with germline mutations in mismatch repair(MMR) genes and microsatellite instability (MSI). As an important clinical subtype of colorectal cancer, HNPCC is accounting for 5%～15% of colorectal cancer. It' s focus research of colon cancer and hereditary tumor currently because of the special genetic etiopathogenisis and the prominent clinical pathology characteristic.     

MMR蛋白表达缺失在筛选遗传性非息肉病性大肠癌中的意义

目的：探讨DNA错配修复基因（MMR）蛋白表达缺失在筛选遗传性非息肉病性大肠癌（HNPCC）中的作用及其意义、方法：对收集的166倒石蜡包埋的疑似遗传性非息肉病性大肠癌组织进行MMR蛋白免疫组化染色，结果：hMLHl蛋白表达阴性（0分）25例，占15．53％，阳性（1～4分）136例，占84‘47％；在右半结肠、左半结肠和直肠表达缺失率分别为26．67％（12／45）、5．13％（2／39）和14．29％（11／77）；右半结肠癌11MLHl蛋白的表达缺失明显高于左半结肠癌（P〈0．05），但与直肠癌无显著性差别（P〉0．05）。hMSH2蛋白表达阴性（0分）35倒，占21．08％，阳性（1～4分）126例，占75．9％；在右半、左半结肠和直肠表达缺失率分别为33_33％（15／45）、15138％（6／39）和18．18％（14／77）；右半结肠癌的表达缺失明显高于左半结肠癌（P〈0．05）和直肠癌（P〈0．01），结论：MMR蛋白免疫组化染色作为一个简单易行的方法在今后检测和确定遗传性非息内病性大肠癌中将发挥重要作用，     

遗传性非息肉病性大肠癌(附100例大肠癌病例临床分析)

遗传性非息肉病性大肠癌（ＨｅｒｅｄｉｔａｒｙＮｏｎ－ｐｏｌｙｐｏｓｉｓＣｏｌｏｒｅｃｔａｌＣａｎｃｅｒ简称ＨＮＰＣＣ）被发现至今已１００余年,起初称为癌症家庭综合症,后经Ｌｙｎｃｈ系统总结,日益引起人们的广泛注意,故一般又称Ｌｙｎｃｈ综合症。本病的诊...     

MMR蛋白在云南地区遗传性非息肉病性 大肠癌中的表达及意义

 目的探讨MLH1、MSH2、PMS2和MSH6蛋白在云南地区遗传性非息肉病性大肠癌（hereditary nonpolyposis colorectal cancer,HNPCC）中的表达及意义。方法根据目前国内外通常采用的三个标准在 云南地区选择遗传性非息肉病性大肠癌病例13个家系中19例肿瘤组织,应用免疫组织化学方法（IHC）检 测MLH1、MSH2、PMS2和MSH6蛋白。结果在这13个家系中,MLH1、MSH2、PMS2和MSH6四种蛋白表达缺失率分 别为30.77%、38.46%、23.08%、15.38%,其中2例家系先证者同时存在MLH1和PMS2蛋白表达缺失,2例家系 先证者同时存在MSH2和MSH6蛋白表达缺失,四种MMR蛋白总的表达缺失率为84.62%。结论云南地区HNPCC病 例存在MLH1、MSH2、PMS2和MSH6 四种MMR蛋白不同程度的缺失表达,应用IHC检测MMR蛋白可以作为筛选 HNPCC家系的一有效手段。     

遗传性非息肉病性大肠癌和普通遗传性大肠癌临床表型分析

目的:探讨遗传性非息肉病性大肠癌(HNPCC)与普通遗传性大肠癌临床表型的异同,为临床辨认HNPCC家系提供依据。方法:选择符合阿姆斯特丹标准Ⅱ或日本标准的22个HNPCC家系(A组)和普通遗传性大肠癌20个家系(B组)为研究对象进行随访分析。结果:1)A、B两组男女发病的比例分别为1.4:1(41/30)和1.5:1(38/26),无显著性差异(P>0.05)。2)A、B两组确诊的中位年龄分别为48岁(32～70岁)和61岁(30～83岁),50岁以前发病比例分别为59.2%和26.6%,A组较B组发病年龄明显提前,差异显著(P<0.01)。3)A、B两组右半结肠癌发病比例分别为56.9%(29/51)和29.2%(7/24),差异显著(P<0.05)。4)A组多发癌7例,B组未见多发癌。5)A组第一、二、三代的平均发病年龄分别为64岁、56岁、48岁,逐渐年轻化,B组无此现象。结论:HNPCC与普通遗传性大肠癌临床表型不尽相同,提示两者各自有其独特的遗传学特征。     

遗传性非息肉病性结直肠癌的临床诊治

基于现代生物学和流行病学的研究，日渐明确大肠癌是由遗传、生活习惯、饮食和环境等多因素协同作用的结果，是由致癌物的作用结合细胞的遗传背景，诱发细胞遗传突变而逐步发展而成的［１］。一般根据发生人群的不同，可将大肠癌归纳为以下五大类：①散发性大肠癌（ｓｐｏ...     

遗传性非息肉病性大肠癌

目的：探讨总结遗传性卢肉病性大肠癌（ＨＮＰＣＣ）的特征,提高早期诊断和治疗水平。方法：复习文献并本结合本组四个家族的临床资料进行总结分析。结果：ＨＮＰＣＣ发病年龄轻,平均发病年龄４４岁,约６５％的患者病变发生在曲近侧结肠;约２５％的患者有多原发大肠癌;２０～７０％的患者可检测到错配修复基因（ＭＭＲ）的突变;病理分化差但有较好的预后。结论：ＨＮＰＣＣ有明显的特征,利用这些特征有助于早期诊断和制定合理     

遗传性非息肉病性结直肠癌7个家系的临床分析

目的：总结遗传性非息肉病性结直肠癌（HNPCC）家系的临床特点,提高临床诊断和治疗水平。方法：收集7个HNPCC家系的病例资料,分析其发病特点并记录随访结果。结果：7个HNPCC家系共有癌症患者23例,肿瘤灶27处：大肠外瘤灶3处;大肠瘤灶24处,其中有13处位于脾曲近侧结肠,占54.1%。平均发病年龄为41.2岁,17例（73.5%）发病在50岁以前。1家系累及连续三代人、4家系累及连续两代人。多原发癌患者4例,其中3例为肠外癌。结论：HNPCC具有发病年龄轻、垂直传递、肠外癌发病率高、常见多原发癌、好发于右半结肠、病理分化较差的特点,但预后相对较好。     

遗传性非息肉病性大肠癌的诊治进展

遗传性非息肉病性结直肠癌(HNPCC)是一种常染色体显性遗传病，错配修复基因的种系突变是发病基础，在散发性大肠癌中遴选HNPCC家族，并对HNPCC患者及其家属进行基因检测可以发现HNPCC相关肿瘤的高危人群，使家族中发病率低的成员免受长期医疗随访之苦，而且对HNPCC相关肿瘤患者进行预防性手术有较大的临床意义。     

hMLH1和hMSH2表达在中国人遗传性非息肉病性结直肠癌遴选中的价值

背景与目的:遗传性非息肉病性结直肠癌(hereditary non-polyposis colorectal cancer, HNPCC)的发病主要与遗传因素有关,呈常染色体显性遗传.目前错配修复(mismatch repair,MMR)基因突变检测为诊断HNPCC的金标准,但尚处于实验室阶段.本研究拟通过免疫组织化学检测的方法来观察错配修复基因中的hMLH1和hMSH2蛋白的表达情况,并评价其在HNPCC遴选中的价值及与临床病理学的关系,为临床筛检HRPCC提供了简单、快速及经济的检测手段.方法:采用免疫组织化学SP法分别对HNPCC组(A组)、普通遗传性结直肠痛组(B组)、散发性结直肠痛组(C组)及结直肠息肉组(D组)4组各20例(共80例)标本进行错配修复基因hMLH1和hMSH2蛋白表达检测,并与临床病理学行为作相关分析.结果:A组hMLH1和hMSH2蛋白总阳性表达率为35%(7/20),B组为70%(14/20),C组为95%(19/20),D组为100%(20/20).即随着D组至A组患HNPCC可能性的增加,hMLH1和hMSH2蛋白阳性表达率呈明显下降的趋势,各组之间相比,筹异有显著性(P<0.05).A组20例HNPCC患者中,右半结肠的发生率为76.9%(10/13),左半结肠的发生率为42.9%(3/7),两者相比,差异有显著性(P<0.05).高、中分化癌发生率为33.3%(2/6),而低分化或术分化癌的发生率为78.6%(11/14),两者相比有显著性差异(P<0.05).hMLH1和hMSH2蛋白的阴性表达与患者的发病年龄、性别、有无淋巴结转移、Dukes分期等尤明显相关性(P>0.05).结论:hMLH1和hMSH2蛋白阴性表达与HNPCC的可能性以及结肠癌的发生部位和分化程度之间显著相关,免疫组织化学检测可为临床筛检HNPCC提供依据.     

遗传性非息肉病性大肠癌三例诊治报告

遗传性非息肉病性大肠癌(hereditary nonpolyposis colorectal cancer，HNPCC)是一种少见的常染色体显性遗传性疾病，占全部大肠癌比例不足5％。现将对3例患者的病程及治疗情况报道如下。