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本文引用的文献

1
Pathology of the hereditary colorectal carcinoma.遗传性结直肠癌的病理学
Fam Cancer. 2008;7(1):15-26. doi: 10.1007/s10689-007-9146-8. Epub 2007 Jun 13.
2
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.结肠癌中DNA错配修复基因突变携带者的鉴定与生存情况
N Engl J Med. 2006 Jun 29;354(26):2751-63. doi: 10.1056/NEJMoa053493.
3
New developments in Lynch syndrome (hereditary nonpolyposis colorectal cancer) and mismatch repair gene testing.林奇综合征(遗传性非息肉病性结直肠癌)及错配修复基因检测的新进展。
Gastroenterology. 2006 Feb;130(2):577-87. doi: 10.1053/j.gastro.2006.01.031.
4
Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified.对散发性结直肠癌进行错配修复缺陷的常规检测是合理的。
J Pathol. 2005 Dec;207(4):377-84. doi: 10.1002/path.1851.
5
Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.利用分子肿瘤特征对早发性结直肠癌错配修复基因检测进行优先级排序。
J Clin Oncol. 2005 Sep 20;23(27):6524-32. doi: 10.1200/JCO.2005.04.671. Epub 2005 Aug 22.
6
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).林奇综合征(遗传性非息肉病性结直肠癌)的筛查
N Engl J Med. 2005 May 5;352(18):1851-60. doi: 10.1056/NEJMoa043146.
7
Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.修订的贝塞斯达指南、微卫星不稳定性及免疫组织化学在遗传性非息肉病性结直肠癌患者识别中的准确性
JAMA. 2005 Apr 27;293(16):1986-94. doi: 10.1001/jama.293.16.1986.
8
Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma.患有结直肠癌的儿童、青少年和青年的家族史及分子特征。
Gut. 2005 Aug;54(8):1146-50. doi: 10.1136/gut.2005.066092. Epub 2005 Apr 21.
9
Systematic review of microsatellite instability and colorectal cancer prognosis.微卫星不稳定性与结直肠癌预后的系统评价
J Clin Oncol. 2005 Jan 20;23(3):609-18. doi: 10.1200/JCO.2005.01.086.
10
Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history.该患者有癌症家族病史吗?一项关于家族癌症病史准确性的循证分析。
JAMA. 2004 Sep 22;292(12):1480-9. doi: 10.1001/jama.292.12.1480.

结直肠癌中的错配修复蛋白表达。

Mismatch repair protein expression in colorectal cancer.

机构信息

Department of Surgery, National University of Ireland Galway, Ireland;

出版信息

J Gastrointest Oncol. 2013 Dec;4(4):397-408. doi: 10.3978/j.issn.2078-6891.2013.021.

DOI:10.3978/j.issn.2078-6891.2013.021
PMID:24294512
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3819778/
Abstract

INTRODUCTION

Alterations in at least six of the genes that encode proteins involved in the mismatch repair (MMR) system have been identified in either HNPCC or sporadic colon cancer. We aimed to analyse the proportion of patients with colorectal cancer with loss of immunostaining for MMR proteins in order to determine the feasibility of molecular screening for the loss of MMR proteins through the study of unselected patients with colorectal cancer.

METHODS

A group of 33 patients with colorectal cancer was randomly selected from the department of surgery bio-bank to determine the expression of MMR proteins in their FFPE tumour tissues using immunohistochemistry techniques. Changes in protein expression following transfection of colorectal tissues were observed in stained cells using Olympus BX60 microscope and image analySIS software.

RESULTS

Of the tissue specimens in which acceptable immunostaining was achieved, three samples showed loss of one or more of the MMR proteins. Both hMLH1 and hPMS2 proteins were not expressed in a 36 years old woman with cancer of the caecum. The expression of hMSH6 protein was undetermined in tumour tissues retrieved from a 61 years old man with cancer of the proximal colon. The third case was a 77 years old man with no documented family history of cancer, who had carcinoma of the rectum. He showed loss of hMLH1 expression in the tumour tissues.

CONCLUSIONS

Our findings and the previous reports pointed out the importance of molecular screening of patients with colorectal cancer for MSI using immunohistochemistry. This strategy managed to identify mutations in patients otherwise would not have been detected.

摘要

简介

在至少六种参与错配修复(MMR)系统的蛋白编码基因中,已经在 HNPCC 或散发性结肠癌中发现了改变。我们旨在分析结直肠癌患者中 MMR 蛋白免疫染色缺失的比例,以确定通过对未经选择的结直肠癌患者进行分子筛选来检测 MMR 蛋白缺失的可行性。

方法

从外科生物银行中随机选择了一组 33 例结直肠癌患者,使用免疫组织化学技术确定其 FFPE 肿瘤组织中 MMR 蛋白的表达。在 Olympus BX60 显微镜和图像分析软件下观察染色细胞中蛋白质表达的变化。

结果

在获得可接受免疫染色的组织标本中,有三个标本显示出一种或多种 MMR 蛋白的缺失。一名 36 岁的女性患有盲肠癌,其 hMLH1 和 hPMS2 蛋白均不表达。一名 61 岁的男性患有结肠癌,其近端结肠肿瘤组织中 hMSH6 蛋白的表达不确定。第三个病例是一名 77 岁的男性,没有家族癌症病史,患有直肠癌。他的肿瘤组织中 hMLH1 表达缺失。

结论

我们的发现和之前的报告都指出了对结直肠癌患者进行免疫组织化学 MSI 分子筛选的重要性。这种策略成功地识别了一些原本无法检测到的突变患者。