Endometrial Cancer as a Familial Tumor: Pathology and Molecular Carcinogenesis (Review)
Endometrial Cancer as a Familial Tumor: Pathology and Molecular Carcinogenesis (Review)
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DOI：
10.2174/138920209787847069
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发表时间：
2009-04-01
期刊：
影响因子：
2.6
通讯作者：
Aoki, Daisuke
中科院分区：
文献类型：
--
作者：
Banno, Kouji;Yanokura, Megumi;Aoki, Daisuke
一些子宫内膜癌病例与家族性肿瘤有关，被称为遗传性非息肉病性结直肠癌（HNPCC或Lynch综合征）。此类肿瘤被认为是由DNA错配修复（MMR）基因的种系突变诱发的，但家族性子宫内膜癌病理学的许多方面尚不清楚，也没有建立有效的筛查方法。然而，在最近的研究中，子宫内膜癌伴家族性肿瘤的病理学已逐步澄清。目前，约0.5%的子宫内膜癌病例符合HNPCC的临床诊断标准。最近对三种MMR基因（hMLH1，hMSH2和hMSH6）的分析显示，120例（15.0%）子宫内膜癌中有18例（15.0%）发生了生殖系突变，伴有家族性累积癌或双重癌，其中hMSH6基因的移码突变最常见。许多突变病例不符合HNPCC的临床诊断标准，表明家族性子宫内膜癌往往不能诊断为HNPCC。结果表明，hMSH6基因突变可能是重要的子宫内膜癌和生殖细胞突变的MMR基因可能是更普遍的情况下，与家族积累的癌症。需要进行一项国际性的大规模多中心研究，以获得关于子宫内膜癌作为家族性肿瘤的病理学的进一步信息。
Some cases of endometrial cancer are associated with a familial tumor and are referred to as hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome). Such tumors are thought to be induced by germline mutation of the DNA mismatch repair (MMR) gene, but many aspects of the pathology of familial endometrial cancer are unclear and no effective screening method has been established. However, the pathology of endometrial cancer with familial tumor has been progressively clarified in recent studies. At present, about 0.5% of all cases of endometrial cancers meet the clinical diagnostic criteria for HNPCC. A recent analysis of the three MMR genes (hMLH1, hMSH2 and hMSH6) revealed germline mutations in 18 of 120 cases (15.0%) of endometrial cancer with familial accumulation of cancer or double cancer, with a frameshift mutation of the hMSH6 gene being the most common. Many cases with mutation did not meet the current clinical diagnostic criteria for HNPCC, indicating that familial endometrial cancer is often not diagnosed as HNPCC. The results suggest that the hMSH6 gene mutation may be important in carcinogenesis in endometrial cancer and germline mutations of the MMR gene may be more prevalent in cases associated with familial accumulation of cancer. An international large-scale muticenter study is required to obtain further information about the pathology of endometrial cancer as a familial tumor.