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

Research output: Contribution to journalReview article

22 Citations (Scopus)

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 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.

Original languageEnglish
Pages (from-to)1184-1188
Number of pages5
JournalOncology Letters
Volume6
Issue number5
DOIs
Publication statusPublished - 2013 Nov 1

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Keywords

  • Endometrial cancer
  • Lobular endocervical glandular hyperplasia
  • Minimal deviation adenocarcinoma
  • Peutz-Jeghers syndrome
  • STK11/LKB1
  • Sex cord tumor

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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