title: A Peutz-Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up report.
abstract: Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder characterized by hamartomatous polyps in both of the gastrointestinal tract and mucosal pigmentation. It could increase in risk of intestinal and extra-intestinal neoplasms. We here described three cases of sinonasal polyposis in a PJS family and two developed sinonasal type adenocarcinoma. Genetic study revealed a germline STK11/LKB1 mutation on codon 179 (c.C536G, p.P179R) of exon 4. LOH analysis of the LKB1 locus confirms this to be a deleterious mutation. Sinonasal polyposis with malignant transformation could be encountered in PJS patients. Regular follow-up was recommended for the risk of malignant changes in nasal polyps.
authors.affiliation: Division of Colon and Rectal Surgery, Department of Surgery, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Tao-Yuan, Taiwan, Republic of China. jmjiang@adm.cgmh.org.tw.|Chang Gung Memorial Hospital, and College of Medicine, Chang Gung University, No.5, Fu-Hsing St. Kuei-Shan, Tao-Yuan, 333, Taiwan, Republic of China. jmjiang@adm.cgmh.org.tw.
authors.forename: Jy-Ming
authors.identifier: http://orcid.org/0000-0003-3700-3195
authors.initials: JM
authors.lastname: Chiang
authors.affiliation: Chang Gung Memorial Hospital, and College of Medicine, Chang Gung University, No.5, Fu-Hsing St. Kuei-Shan, Tao-Yuan, 333, Taiwan, Republic of China. ctc323@adm.cgmh.org.tw.|Department of Pathology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Tao-Yuan, Taiwan, Republic of China. ctc323@adm.cgmh.org.tw.
authors.forename: Tse-Ching
authors.initials: TC
authors.lastname: Chen
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000230:Adenocarcinoma / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D000328:Adult; D005260:Female; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D009669:Nose Neoplasms / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000235:genetics* / Q000628:therapy; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases
keywords: Nasal polyps; Peutz-Jeghers syndrome; STK11 mutation