title: Duodenal cancer in a young patient with Peuts-Jeghers syndrome harboring an entire deletion of the STK11 gene.
abstract: A 21-year-old woman with Peuts-Jeghers syndrome (PJS) was referred to our hospital for gastrointestinal surveillance. She had been diagnosed as having PJS from a young age based on her family history and the presence of mucocutaneous pigmentation on her lips and oral mucosa. Her mother and brother had PJS harboring an entire deletion of the STK11 gene. She had tetralogy of Fallot, atrial tachycardia, sick sinus syndrome, and mental retardation in her past history. Esophagogastroduodenoscopy identified a protruded lesion with a depressed area that occupied the lumen half-circumferentially in the duodenal second portion and also showed a 10-mm protruded lesion on the anterior wall of the lower gastric body. Colonoscopy revealed a 3-mm protruded lesion on the rectum. No polyp was found in a barium small bowel series. Biopsies were taken from the duodenal tumor and gastric and colon polyps. Histopathologically, the duodenal tumor revealed a well-differentiated tubular adenocarcinoma, whereas gastric and colon polyps showed hamartomatous polyp. Therefore, subtotal stomach-preserving pancreatoduodenectomy was performed, and subsequent histopathological examination revealed that the duodenal tumor consisted of hamartomatous polyp and a well-differentiated tubular adenocarcinoma with invasion to the muscularis propria. Immunohistochemistry revealed accumulation of nuclear p53 protein, but no accumulation of nuclear β-catenin protein. No RAS mutation was detected. Furthermore, direct sequencing of the STK11 gene in genomic DNA from peripheral blood mononuclear cells did not detect any mutation initially. However, multiplex ligation-dependent probe amplification (MLPA) analysis revealed entire deletion of STK11. These findings suggest that entire deletion of the STK11 gene caused hamartomatous polyps in the entire gastrointestinal tract and, subsequently, duodenal polyps likely gave rise to cancer through p53 mutation.
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: Satoshi
authors.initials: S
authors.lastname: Teramae
authors.affiliation: Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan. tagayasu33jp@yahoo.co.jp.
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: Kumiko
authors.initials: K
authors.lastname: Tanaka
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: Reika
authors.initials: R
authors.lastname: Matsumoto
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: Shinji
authors.initials: S
authors.lastname: Kitamura
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: 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 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: Division of Pathology, Tokushima University Hospital, Tokushima, Japan.
authors.forename: Yoshimi
authors.initials: Y
authors.lastname: Bando
authors.affiliation: Department of Surgery, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Shimada
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: Tetsuji
authors.initials: T
authors.lastname: Takayama
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000230:Adenocarcinoma / Q000175:diagnosis / Q000235:genetics*; D003113:Colonoscopy; D004379:Duodenal Neoplasms / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D016145:Endoscopy, Digestive System; D005260:Female; D017353:Gene Deletion; D006801:Humans; D010580:Peutz-Jeghers Syndrome / Q000150:complications*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases
keywords: Duodenal cancer; Mental retardation; Peuts-Jeghers syndrome; STK11