Microsatellite instability in colorectal cancer.

Microsatellite instability in colorectal cancer.
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DOI:
10.1053/j.gastro.2009.12.064
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发表时间:
2010-06
期刊:
影响因子:
29.4
通讯作者:
Goel A
Goel A
中科院分区:
医学1区
文献类型:
--
作者:
Boland CR;Goel A

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微卫星不稳定性(MSI)是由DNA错配修复活性丧失引起的高变表型。MSI在所有结直肠癌的约15%中检测到;其中3%与Lynch综合征相关,另外12%由MLH 1基因启动子的散发性、获得性超甲基化引起,其发生在具有CpG岛甲基化表型的肿瘤中。MSI结直肠肿瘤具有独特的特征,包括倾向于发生在近端结肠,淋巴细胞浸润,低分化,粘液或印戒外观。它们的预后略好于没有MSI的结直肠肿瘤,并且对化疗药物的反应不同。结直肠肿瘤中MSI的发现提高了人们对结直肠癌多样性的认识,并对患者的专业管理产生了影响。
Microsatellite instability (MSI) is a hypermutable phenotype caused by the loss of DNA mismatch repair activity. MSI is detected in about 15% of all colorectal cancers; 3% are of these are associated with Lynch syndrome and the other 12% are caused by sporadic, acquired hypermethylation of the promoter of the MLH1 gene, which occurs in tumors with the CpG island methylator phenotype. Colorectal tumors with MSI have distinctive features, including a tendency to arise in the proximal colon, lymphocytic infiltrate, and a poorly differentiated, mucinous or signet ring appearance. They have a slightly better prognosis than colorectal tumors without MSI and do not have the same response to chemotherapeutics. Discovery of MSI in colorectal tumors has increased awareness of the diversity of colorectal cancers and implications for specialized management of patients.
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