title: Hereditary gynecological tumors associated with Peutz-Jeghers syndrome (Review).
abstract: Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease that is characterized by gastrointestinal hamartomatous polyposis and mucocutaneous melanin spots. The tumor suppressor gene,STK11/LKB1, which is located on chromosome 19p13.3, has been reported to be responsible for this condition. PJS is complicated by benign and malignant tumors of various organs and complications from rare diseases, including sex cord tumor with annular tubules (SCTAT) and minimal deviation adenocarcinoma (MDA), which have also recently attracted attention in the field of gynecology. Among the total MDA cases, 10% are complications of PJS, and mutations in theSTK11gene are closely associated with the development and prognosis of MDA. Furthermore, a new type of uterine cervical tumor, lobular endocervical glandular hyperplasia (LEGH), has been identified and has been predicted to be a precancerous lesion of MDA. The first case of LEGH induced by a germlineSTK11mutation has also been described. A high risk of endometrial cancer in PJS has also been reported. These developments suggest that PJS is an important syndrome of hereditary gynecological tumors that requires further study.
authors.affiliation: Department of Obstetrics and Gynecology, School of Medicine, Keio University, Tokyo 160-8582, Japan.
authors.forename: Kouji
authors.initials: K
authors.lastname: Banno
authors.forename: Iori
authors.initials: I
authors.lastname: Kisu
authors.forename: Megumi
authors.initials: M
authors.lastname: Yanokura
authors.forename: Kenta
authors.initials: K
authors.lastname: Masuda
authors.forename: Arisa
authors.initials: A
authors.lastname: Ueki
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: Akira
authors.initials: A
authors.lastname: Hirasawa
authors.forename: Daisuke
authors.initials: D
authors.lastname: Aoki
keywords: Peutz-Jeghers syndrome; STK11/LKB1; endometrial cancer; lobular endocervical glandular hyperplasia; minimal deviation adenocarcinoma; sex cord tumor