Predominance of CIN versus MSI in the development of rectal cancer at young age.
Predominance of CIN versus MSI in the development of rectal cancer at young age.
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DOI：
10.1186/1471-2407-2-25
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发表时间：
2002-10-14
期刊：
影响因子：
3.8
通讯作者：
Nilbert M
中科院分区：
文献类型：
--
作者：
Fernebro E;Halvarsson B;Baldetorp B;Nilbert M
近端和远端结直肠癌的发展涉及与微卫星不稳定性（MSI）和染色体不稳定性（CIN）途径相关的部分不同机制。50岁以下患者的结直肠癌占肿瘤总数的约5%，并且与MSI肿瘤的频率增加相关。然而，MSI和CIN可能在结肠癌和直肠癌的发展中发挥不同的作用，我们专门研究了它们对年轻人直肠癌发展的贡献。对30例50岁以前诊断的直肠癌进行了DNA倍体、MSI、KRAS和CTNNB 1突变以及p53、β-连环蛋白和错配修复（MMR）蛋白MLH 1和MSH 2的免疫组化表达的特征分析。30例肿瘤中21例检测到DNA异倍体，6例检测到KRAS突变，6例未检测到CTNNB 1突变，但β-catenin免疫组化染色显示细胞核染色，18例检测到p53免疫组化表达。在3/30个肿瘤中检测到MSI，所有这些肿瘤均显示MMR蛋白MSH 2的免疫组化染色丢失，这强烈表明与遗传性非息肉病性结直肠癌（HNPCC）相关的表型。MSI仅发生在年轻直肠癌患者的一小部分肿瘤中，但当存在时，它强烈表明潜在的HNPCC引起的突变，以及HNPCC以外的其他机制导致大多数年轻患者的直肠癌。
Development of proximal and distal colorectal cancers involve partly different mechanisms associated with the microsatellite instability (MSI) and the chromosomal instability (CIN) pathways. Colorectal cancers in patients under 50 years of age represent about 5% of the total number of tumors and have been associated with an increased frequency of MSI tumors. However, MSI and CIN may play different roles in the development of colon cancer and rectal cancer, and we have specifically investigated their contribution to the development of rectal cancer at young age. Thirty rectal cancers diagnosed before the age of 50 were characterized for DNA-ploidy, MSI, mutations of KRAS and CTNNB1 and immunohistochemical expression of p53, β-catenin and of the mismatch repair (MMR) proteins MLH1 and MSH2. DNA aneuploidy was detected in 21/30 tumors, KRAS mutations in 6 tumors, no mutations of CTNNB1 were detected but immunohistochemical staining for β-catenin showed nuclear staining in 6 tumors, and immunohistochemical expression of p53 was detected in 18 tumors. MSI was detected in 3/30 tumors, all of which showed and immunohistochemical loss of staining for the MMR protein MSH2, which strongly indicates a phenotype associated with hereditary nonpolyposis colorectal cancer (HNPCC). MSI occurs only in a small fraction of the tumors from young patients with rectal cancer, but when present it strongly indicates an underlying HNPCC-causing mutation, and other mechanisms than HNPCC thus cause rectal cancer in the majority of young patients.
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影响因子：
7.3
作者：
Kapiteijn, E;Liefers, GJ;van Krieken, JHJM
通讯作者：
van Krieken, JHJM
DOI：
10.1136/mp.52.5.257
发表时间：
1999-10-01
期刊：
JOURNAL OF CLINICAL PATHOLOGY-MOLECULAR PATHOLOGY
影响因子：
--
作者：
Mutter, GL;Wada, H;Enomoto, T
通讯作者：
Enomoto, T
影响因子：
8.4
作者：
Nilbert, M;Planck, M;Johnson, A
通讯作者：
Johnson, A
影响因子：
6
作者：
Young, J;Simms, LA;Jass, JR
通讯作者：
Jass, JR
影响因子：
3.9
作者：
Suh, JH;Lim, SD;Kang, GH
通讯作者：
Kang, GH