title: [A Case of Colon Cancer with Familial Adenomatous Polyposis Showing MSI-H and Deletion of MSH2/MSH6 Protein].
abstract: A 31-year-old woman with familial adenomatous polyposis (FAP) was diagnosed with colon cancer. Genetic testing showed a germ cell line mutation of APC (a frame-shift mutation). Moreover, deletion of MSH2/MSH6 protein and high microsatellite instability (MSI-H) was detected. Therefore, Lynch syndrome (LS) associated with FAP was suspected. Additional analysis showed no pathogenic mutation of MSH2 and no change in the number of copies or methylation in the promoter region. Therefore, this was not a case of LS caused by a genetic germ cell line mutation. The chromosome instability had been caused by a malfunction of APC, and it produced a structural change in a gene in the somatic cells. This case is very interesting.
authors.affiliation: Dept. of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University.
authors.forename: Okihide
authors.initials: O
authors.lastname: Suzuki
authors.forename: Noriyasu
authors.initials: N
authors.lastname: Chika
authors.forename: Minoru
authors.initials: M
authors.lastname: Fukuchi
authors.forename: Kensuke
authors.initials: K
authors.lastname: Kumamoto
authors.forename: Youichi
authors.initials: Y
authors.lastname: Kumagai
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Ishibashi
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Eguchi
authors.forename: Erito
authors.initials: E
authors.lastname: Mochiki
authors.forename: Kiwamu
authors.initials: K
authors.lastname: Akagi
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Ishida
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000235:genetics*; D000328:Adult; D003110:Colonic Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D004268:DNA-Binding Proteins / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D006801:Humans; D053842:Microsatellite Instability; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
chemical_list: D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein