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Published on: October 14, 2019

Endocrine tumor syndromes in infancy and childhood

Ronald R de Krijger1

  • 1Department of Pathology, Josephine Nefkens Institute, Erasmus MC-University Medical Center, Rotterdam, The Netherlands. r.dekrijger@erasmusmc.nl

Endocrine Pathology
|January 11, 2005
PubMed

Insights

This review covers three pediatric endocrine tumor syndromes: multiple endocrine neoplasia type 1 (MEN1), type 2 (MEN2), and von Hippel-Lindau disease (VHL). It details their genetic basis, tumor presentation, and current management guidelines.

Area of Science:

  • Pediatric Endocrinology
  • Oncology
  • Genetics

Background:

  • Heritable tumor syndromes are a significant concern in pediatric endocrinology.
  • Recent advances in gene discovery have improved understanding of these disorders.
  • Multiple endocrine neoplasia types 1 and 2 (MEN1, MEN2) and von Hippel-Lindau disease (VHL) are key examples.

Purpose of the Study:

  • To review three major heritable endocrine tumor syndromes in children.
  • To emphasize the age and clinical presentation of tumors associated with these syndromes.
  • To provide an overview of current screening and treatment guidelines.

Main Methods:

  • Literature review focusing on genetic discoveries and clinical manifestations.
  • Synthesis of information on MEN1, MEN2, and VHL disease.
  • Inclusion of current screening and treatment recommendations.

Main Results:

  • MEN1 is associated with mutations in the menin gene.
  • MEN2 is linked to mutations in the RET protooncogene.
  • VHL disease results from VHL gene abnormalities, including mutations.

Conclusions:

  • Understanding the genetic basis of MEN1, MEN2, and VHL is crucial for pediatric endocrine tumor management.
  • Early diagnosis and appropriate screening/treatment are vital for improving patient outcomes.
  • This review provides a consolidated resource for clinicians managing these rare conditions.

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