title: Development of invasive colon cancer with microsatellite instability in a patient with hyperplastic polyposis syndrome.
abstract: The serrated pathway has recently been proposed as a route for the development of colorectal cancer with microsatellite instability. Hyperplastic polyposis syndrome is a rare syndrome defined by the presence of numerous serrated polyps, with a high risk of developing into colorectal cancer. We present here a case of hyperplastic polyposis syndrome developing into colorectal cancer with microsatellite instability from a serrated polyp. BRAF mutation and the loss of MLH1 protein were observed in the colorectal cancer, but not in the other serrated polyps around the colorectal cancer, suggesting that colorectal cancer with microsatellite instability develops rapidly from a specific serrated polyp with distinct molecular properties.
authors.affiliation: Department of Gastroenterology, Fukuyama Medical Center, 4-14-17 Okinogami-cho, Fukuyama 720-8520, Japan. cdqjy411@yahoo.co.jp
authors.forename: Joichiro
authors.initials: J
authors.lastname: Horii
authors.forename: Jun
authors.initials: J
authors.lastname: Kato
authors.forename: Takeshi
authors.initials: T
authors.lastname: Nagasaka
authors.forename: Sakiko
authors.initials: S
authors.lastname: Hiraoka
authors.forename: Dong-Sheng
authors.initials: DS
authors.lastname: Sun
authors.forename: Kazuo
authors.initials: K
authors.lastname: Watanabe
authors.forename: Isao
authors.initials: I
authors.lastname: Fujita
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Toyokawa
authors.forename: Jun
authors.initials: J
authors.lastname: Tomoda
authors.forename: Kazuhide
authors.initials: K
authors.lastname: Yamamoto
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D002471:Cell Transformation, Neoplastic / Q000235:genetics* / Q000473:pathology; D003110:Colonic Neoplasms / Q000235:genetics* / Q000473:pathology*; D003111:Colonic Polyps / Q000235:genetics* / Q000473:pathology*; D019175:DNA Methylation; D018450:Disease Progression; D006801:Humans; D006965:Hyperplasia; D008297:Male; D053842:Microsatellite Instability; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D009154:Mutation; D009361:Neoplasm Invasiveness; D009687:Nuclear Proteins / Q000235:genetics; D011230:Precancerous Conditions / Q000235:genetics* / Q000473:pathology; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D013577:Syndrome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D000070957:MutL Protein Homolog 1