title: Multiple tumors and a novel E2F-4 mutation. A case report.
abstract: Defects in the DNA mismatch-repair are known to cause microsatellite instability (MSI) in hereditary nonpolyposis colorectal cancer (HNPCC) as well as sporadic colorectal cancer (CRC). We previously reported that the E2F-4 gene, which encodes an important transcription factor in cell cycle control, had frequent tumor-specific mutations at the trinucleotide coding region microsatellite (CAG)n in a subset of human sporadic CRC with MSI. We report a 65-year-old man with triple tumors in the abdomen, including colon cancer, stomach cancer, and lipoma of the retroperitoneum, with the analysis of E2F-4 mutation. We report the first case of colon cancer with a homozygous E2F-4 mutation along with a detailed analysis of other cancer related genes as well as a prognosis.
authors.affiliation: First Department of Surgery, Okayama University Medical School, Okayama, Japan. nagamb@cc.okayama-u.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Matsubara
authors.forename: T
authors.initials: T
authors.lastname: Yoshitaka
authors.forename: T
authors.initials: T
authors.lastname: Matsuno
authors.forename: M
authors.initials: M
authors.lastname: Ikeda
authors.forename: H
authors.initials: H
authors.lastname: Isozaki
authors.forename: N
authors.initials: N
authors.lastname: Tanaka
authors.forename: K
authors.initials: K
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D003110:Colonic Neoplasms / Q000235:genetics* / Q000473:pathology; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics*; D050704:E2F4 Transcription Factor; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D017354:Point Mutation; D011379:Prognosis; D012186:Retroperitoneal Neoplasms / Q000235:genetics* / Q000473:pathology; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D050704:E2F4 Transcription Factor; D014157:Transcription Factors