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Cancer risk in patients with Peutz-Jeghers syndrome in Korea: a retrospective multi-center study

Su Hwan Kim1, Eun Ran Kim2, Jae Jun Park3

  • 1Department of Internal Medicine, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul National University College of Medicine, Seoul, Korea.

The Korean Journal of Internal Medicine
|December 15, 2022
PubMed

Insights

Patients with Peutz-Jeghers syndrome (PJS) face high risks for both gastrointestinal and extra-gastrointestinal cancers. Early and ongoing cancer surveillance is crucial for managing PJS patients effectively.

Area of Science:

  • Oncology
  • Genetics
  • Gastroenterology

Background:

  • Limited research exists on cancer risks in Korean Peutz-Jeghers syndrome (PJS) patients.
  • Peutz-Jeghers syndrome is a rare genetic disorder associated with increased cancer susceptibility.

Purpose of the Study:

  • To investigate the clinical characteristics of PJS patients in Korea.
  • To determine the cancer incidence rate and cumulative cancer risks in PJS patients.

Main Methods:

  • A cohort study involving 96 PJS patients from nine medical centers.
  • Cancer data, including diagnosis date, tumor location, and stage, were collected.
  • Kaplan-Meier method was used to calculate cumulative risks for gastrointestinal and extra-gastrointestinal cancers.

Main Results:

  • Cancer developed in 21.9% of PJS patients.
  • Gastrointestinal cancers (12 cases) and breast cancer (6 cases) were most common.
  • Calculated cumulative lifetime cancer risk was 62.1% by age 60, with significant risks for both gastrointestinal (47.1% by age 70) and extra-gastrointestinal cancers (40.3% by age 60).

Conclusions:

  • Peutz-Jeghers syndrome can manifest at any age.
  • PJS patients have a high cumulative risk for both gastrointestinal and extra-gastrointestinal malignancies.
  • Rigorous surveillance for various cancers is essential for PJS patient management.
Abstract

Keywords:
NeoplasmsPeutz-Jeghers syndromeSurveillance

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