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[Current research status of Peutz-Jeghers syndrome in children]

Qin Tong1

  • 1Department of Digestive Nutrition, Hunan Children's Hospital, Changsha 410007, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|October 28, 2024
PubMed

Insights

Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing pigment spots and polyps, increasing cancer risk. In children, intussusception is a major concern, impacting growth and quality of life.

Area of Science:

  • Genetics
  • Pediatrics
  • Oncology

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
  • Characterized by mucocutaneous pigmentation and hamartomatous polyps.
  • Leads to increased susceptibility to various tumors.

Purpose of the Study:

  • To provide an overview of PJS in children.
  • Covering clinical characteristics, etiology, pathogenesis, diagnosis, and treatment.
  • Highlighting the risks associated with childhood PJS.

Main Methods:

  • Review of current research on PJS in pediatric patients.
  • Analysis of genetic factors, specifically the STK11/LKB1 gene.
  • Examination of clinical manifestations and complications.

Main Results:

  • PJS is linked to the STK11/LKB1 gene on chromosome 19p13.3.
  • Complications include gastrointestinal bleeding, intussusception, obstruction, and malignancy.
  • Intussusception poses the greatest risk in childhood, requiring surgical intervention.

Conclusions:

  • PJS significantly impacts children's growth, development, and quality of life.
  • Early diagnosis and management are crucial for pediatric PJS patients.
  • Further research is needed to optimize treatment strategies for childhood PJS.

Keywords:
ChildGastrointestinal polypPeutz-Jeghers syndrome

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