title: Protein-losing enteropathy in a patient with familial adenomatous polyposis and advanced colon cancer.
abstract: A 29-year-old female visited a hospital because of increasingly severe lower leg edema. She was diagnosed as having multiple polyps in the stomach and colon by gastroscopy and sigmoidoscopy as well as multiple liver tumors by abdominal CT. She was referred to our hospital for further examination. Total colonoscopy revealed a type 2 tumor in the transverse colon and more than 200 polyps distributed throughout the colorectum. Biopsies of the tumor and polyps showed histological characteristics of adenocarcinoma and tubulovillous adenoma, respectively. Thus, she was diagnosed as having metastatic colon cancer derived from familial adenomatous polyposis (FAP). Laboratory tests showed a marked hypoalbuminemia of 1.1 g/dl. The fecal alpha-1 anti-trypsin test showed abnormal clearance (62.1 ml/day), and scintigraphy using 99mTc-human serum albumin revealed protein loss in the whole colon. Multiple ligation probe amplification analysis of the APC gene identified a germline duplication of exons 11-13. Direct sequencing of the reverse transcription PCR products of APC mRNA revealed a deletion of 25 base pairs and a tandem duplication of exons 11-13. This case was considered to be protein-losing enteropathy resulting from numerous colonic tubulovillous adenomas and advanced colon cancer in a FAP patient with unusual mutational events in APC.
authors.affiliation: Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Miyamoto
authors.affiliation: Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Muguruma
authors.affiliation: Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Kimura
authors.affiliation: Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Okamoto
authors.affiliation: Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Sogabe
authors.affiliation: Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Miyamoto
authors.affiliation: Department of Internal Medicine, Handa Hospital, Tsurugi, Japan.
authors.forename: Seiya
authors.initials: S
authors.lastname: Kohno
authors.affiliation: Department of Internal Medicine, Handa Hospital, Tsurugi, Japan.
authors.forename: Masahiko
authors.initials: M
authors.lastname: Nakasono
authors.affiliation: Department of Internal Medicine, Handa Hospital, Tsurugi, Japan.
authors.forename: Hiroshige
authors.initials: H
authors.lastname: Hayashi
authors.affiliation: Division of Pathology, Tokushima University Hospital, Tokushima, Japan.
authors.forename: Yoshimi
authors.initials: Y
authors.lastname: Bando
authors.affiliation: Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan. takayama@tokushima-u.ac.jp.
authors.forename: Tetsuji
authors.initials: T
authors.lastname: Takayama
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D003110:Colonic Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D003113:Colonoscopy; D004252:DNA Mutational Analysis / Q000379:methods; D004487:Edema / Q000209:etiology; D005260:Female; D005773:Gastroscopy; D017491:Genes, APC; D006801:Humans; D007866:Leg; D008113:Liver Neoplasms / Q000000981:diagnostic imaging; D009154:Mutation; D010375:Pedigree; D011504:Protein-Losing Enteropathies / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics; D011877:Radionuclide Imaging; D014057:Tomography, X-Ray Computed
keywords: APC gene mutation; Leg edema; Tubulovillous adenoma