Banno Kouji, Susumu Nobuyuki, Yanokura Megumi, Hirao Takeshi, Iwata Takashi, Hirasawa Akira, Aoki Daisuke, Sugano Kokichi, Nozawa Shiro
Department of Obstetrics and Gynecology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582, Tokyo, Japan.
Int J Clin Oncol. 2004 Aug;9(4):262-9. doi: 10.1007/s10147-004-0402-8.
Hereditary nonpolyposis colorectal cancer (HNPCC) is among the representative familial cancers that are autosomally dominant inherited disorders. Because endometrial cancers develop at high rates in women with HNPCC, it is suggested that some endometrial cancers are familial cancers that are induced by mutations of the DNA mismatch repair (MMR) genes, as in HNPCC. To understand the clinical pathology of familial endometrial cancers that are associated with HNPCC, we surveyed the family histories of 385 patients with endometrial cancer and found that 0.5% of endometrial cancers met the new diagnostic criteria of HNPCC. From molecular and biological analyses, we found microsatellite instability in 30.8% of endometrial cancers and germline mutations of MMR genes in 8.3%. These results suggest a close relationship of MMR gene mutations to the development of endometrial cancers. For a better understanding of the clinical pathology of HNPCC-associated familial endometrial cancers, it is critical for gynecologists to perform a large multicenter study, including detailed family histories.
遗传性非息肉病性结直肠癌（HNPCC）是具有常染色体显性遗传特征的代表性家族性癌症之一。由于HNPCC女性患子宫内膜癌的几率较高，因此有人提出，某些子宫内膜癌是由DNA错配修复（MMR）基因突变引起的家族性癌症，就像HNPCC一样。为了了解与HNPCC相关的家族性子宫内膜癌的临床病理特征，我们调查了385例子宫内膜癌患者的家族史，发现0.5%的子宫内膜癌符合HNPCC的新诊断标准。通过分子和生物学分析，我们发现30.8%的子宫内膜癌存在微卫星不稳定性，8.3%存在MMR基因种系突变。这些结果表明MMR基因突变与子宫内膜癌的发生密切相关。为了更好地了解与HNPCC相关的家族性子宫内膜癌的临床病理特征，妇科医生开展包括详细家族史的大型多中心研究至关重要。
