title: Relationship of lower uterine segment cancer with Lynch syndrome: a novel case with an hMLH1 germline mutation.
abstract: Lynch syndrome is a genetic disease that often develops in patients with             endometrial cancer and is caused by abnormal DNA mismatch repair (MMR) genes.             In the United States, it was recently reported that the prevalence of Lynch syndrome             with an hMSH2 mutation in patients with endometrial cancer in the lower uterine             segment (LUS) is much greater than that in patients with endometrial cancer, although             no such reports have been published in Asia. In this study, we examined the correlation             between endometrial cancer in LUS and abnormalities in MMR genes. We examined             625 patients, who were diagnosed with endometrial cancer and underwent a hysterectomy.             Nine patients (1.4%) had cancer based on pathological confirmation of a tumor             in the lower part of the uterus and no cancer in the upper part. These cases were             compared with 27 cases of sporadic endometrial (non-LUS) cancer. The age and BMI             of the patients with LUS cancer were significantly lower than those of the patients             with non-LUS cancer. No differences were observed in the pathological characteristics.             The microsatellite instability (MSI)-positive rates were similar. Immunohistochemistry             showed a decreased expression of hMLH1 and hMSH6 in patients with LUS cancer.             In contrast with earlier reports from the United States, hMSH2 was expressed in             all the cases. Of the 2 patients with LUS cancer who exhibited high MSI, 1 patient             showed abnormal methylation of hMLH1, while the other patient was diagnosed with             Lynch syndrome with a mutation in the hMLH1 gene. This is the second report on             the relationship of LUS cancer and Lynch syndrome, and the first to describe an             Asian patient with LUS cancer with Lynch syndrome induced by an hMLH1 mutation.
authors.affiliation: Department of Obstetrics and Gynecology, School of Medicine,                     Keio University, Tokyo 160-8582, Japan.
authors.forename: Kenta
authors.initials: K
authors.lastname: Masuda
authors.forename: Kouji
authors.initials: K
authors.lastname: Banno
authors.forename: Akira
authors.initials: A
authors.lastname: Hirasawa
authors.forename: Megumi
authors.initials: M
authors.lastname: Yanokura
authors.forename: Kosuke
authors.initials: K
authors.lastname: Tsuji
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: Iori
authors.initials: I
authors.lastname: Kisu
authors.forename: Arisa
authors.initials: A
authors.lastname: Ueki
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Nomura
authors.forename: Eiichiro
authors.initials: E
authors.lastname: Tominaga
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Susumu
authors.forename: Daisuke
authors.initials: D
authors.lastname: Aoki
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000096:biosynthesis / Q000235:genetics*; D000328:Adult; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000150:complications / Q000235:genetics / Q000378:metabolism; D019175:DNA Methylation / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000096:biosynthesis; D016889:Endometrial Neoplasms / Q000150:complications / Q000235:genetics / Q000378:metabolism; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D053842:Microsatellite Instability; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D009687:Nuclear Proteins / Q000096:biosynthesis / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1