中国实用儿科杂志

中国实用儿科杂志 ›› 2025, Vol. 40 ›› Issue (11): 886-890.DOI: 10.19538/j.ek2025110602

• 专题笔谈 • 上一篇    下一篇

儿童Peutz-Jeghers综合征的基因诊断与遗传咨询

  

  1. 陕西省儿科疾病研究所  西安交通大学附属儿童医院，陕西  西安  710003
  • 出版日期:2025-11-06 发布日期:2025-12-11
  • 通讯作者: 杨颖，电子信箱：yying1930@163.com
  • 基金资助:
    陕西省自然科学基础研究计划重点项目（2024JC-ZDXM-51）

Genetic diagnosis and genetic counseling for pediatric Peutz-Jeghers syndrome

  1. Shaanxi Institute of Pediatric Diseases，Children’s Hospital Affiliated to Xi’an Jiaotong University，Xi’an  710003，China
  • Online:2025-11-06 Published:2025-12-11

摘要： 儿童Peutz-Jeghers综合征（Peutz-Jeghers syndrome，PJS）是一种罕见的常染色体显性遗传病，主要由STK11基因突变引起，其临床特征包括多发性胃肠道错构瘤样息肉和黏膜色素沉着，并伴随显著的肿瘤发生风险。近年来，随着基因组学的发展，PJS的基因诊断技术也在不断进步，传统的 Sanger 测序、多重连接依赖探针扩增技术（multiplex ligation-dependent probe amplification，MLPA）以及新兴的高通量测序（next-generation sequencing，NGS）技术检测已逐渐成为常规方法，为早期诊断提供了新的机遇。与此同时，遗传咨询在基因诊断中的重要性日益凸显，涵盖家系分析、风险评估及生育指导等内容，帮助患儿家庭更好地理解疾病风险和管理策略。该文旨在探讨PJS的基因诊断方法及其遗传咨询，结合最新的研究进展，系统分析PJS的分子机制、临床表现及遗传咨询策略，为临床诊治和家族管理提供理论依据和实践指导。

关键词:

Abstract: Pediatric Peutz-Jeghers syndrome（PJS）is a rare autosomal dominant genetic disease caused mainly by STK11 gene mutations.PJS is characterized by multiple gastrointestinal hamartomatoid polyps and mucosal hyperpigmentation，and is associated with a significant risk of neoplasia.In recent years，with the development of genomics，the genetic diagnosis technology of PJS is also progressing.Traditional Sanger sequencing，multiplex ligation-dependent probe amplification（MLPA），and emerging next-generation sequencing（NGS）have become routine methods，which provide new opportunities for early diagnosis.At the same time，genetic counseling plays an increasingly important role in genetic diagnosis，covering family analysis，risk assessment and fertility guidance， which helps families better understand disease risks and management strategies.This article aims to review the genetic diagnosis methods and genetic counseling of PJS，and systematically analyze the molecular mechanism，clinical manifestations and genetic counseling strategies of PJS based on the latest research progress，so as to provide theoretical basis and practical guidance for clinical diagnosis，treatment and family management.

Key words: Peutz-Jeghers syndrome, STK11 gene, child