Hereditary gynecological tumors associated with Peutz-Jeghers syndrome (review)

Kouji Banno, Iori Kisu, Megumi Yanokura, Kenta Masuda, Arisa Ueki, Yusuke Kobayashi, Akira Hirasawa, Daisuke Aoki

研究成果: Review article査読

37 被引用数 (Scopus)


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 the STK11 gene 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 germline STK11 mutation 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.

ジャーナルOncology Letters
出版ステータスPublished - 2013 11月

ASJC Scopus subject areas

  • 腫瘍学
  • 癌研究


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