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

Kouji Banno1, Iori Kisu, Megumi Yanokura

  • 1Department of Obstetrics and Gynecology, School of Medicine, Keio University, Tokyo 160-8582, Japan.

Oncology Letters
|November 2, 2013
PubMed

Insights

Peutz-Jeghers syndrome (PJS) involves gastrointestinal polyps and skin spots, linked to the STK11 gene. This hereditary condition increases the risk of gynecological tumors, including minimal deviation adenocarcinoma.

Area of Science:

  • Genetics
  • Gynecology
  • Oncology

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by hamartomatous polyposis and mucocutaneous pigmentation.
  • The condition is associated with mutations in the tumor suppressor gene STK11/LKB1.
  • PJS predisposes individuals to various benign and malignant tumors, with increasing recognition of gynecological manifestations.

Purpose of the Study:

  • To highlight the association between Peutz-Jeghers syndrome and gynecological tumors.
  • To discuss the role of STK11 gene mutations in the development of these tumors.
  • To emphasize the significance of PJS as a hereditary gynecological cancer syndrome.

Main Methods:

  • Literature review focusing on PJS and associated gynecological conditions.
  • Analysis of the genetic basis of PJS, particularly STK11 mutations.
  • Review of recent case reports and studies on gynecological tumors in PJS patients.

Main Results:

  • Minimal deviation adenocarcinoma (MDA) occurs in 10% of PJS cases, with STK11 mutations influencing its development and prognosis.
  • Lobular endocervical glandular hyperplasia (LEGH), a precancerous cervical lesion, has been linked to germline STK11 mutations.
  • PJS patients exhibit a high risk for endometrial cancer.

Conclusions:

  • Peutz-Jeghers syndrome is a significant hereditary condition with substantial gynecological cancer risks.
  • STK11 gene mutations play a crucial role in the pathogenesis of PJS-related gynecological tumors.
  • Further research into PJS is warranted due to its implications for hereditary gynecological oncology.

Keywords:
Peutz-Jeghers syndromeSTK11/LKB1endometrial cancerlobular endocervical glandular hyperplasiaminimal deviation adenocarcinomasex cord tumor

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