Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex

Clin Cancer Res. 2025 Jan 17;31(2):234-244. doi: 10.1158/1078-0432.CCR-24-1947.

Abstract

Phosphate and tensin homolog hamartoma tumor syndrome, DICER1-related tumor predisposition, and tuberous sclerosis complex are rare conditions, which each increases risk for distinct spectra of benign and malignant neoplasms throughout childhood and adulthood. Surveillance considerations for each of these conditions focus on patient and family education, early detection, and multidisciplinary care. In this article, we present updated surveillance recommendations and considerations for children and adolescents with phosphate and tensin homolog hamartoma tumor syndrome, DICER1-related tumor predisposition, and tuberous sclerosis complex and provide suggestions for further research in each of these conditions.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Child
  • DEAD-box RNA Helicases* / genetics
  • Genetic Predisposition to Disease*
  • Hamartoma Syndrome, Multiple* / diagnosis
  • Hamartoma Syndrome, Multiple* / epidemiology
  • Hamartoma Syndrome, Multiple* / genetics
  • Humans
  • Mutation
  • PTEN Phosphohydrolase* / genetics
  • Ribonuclease III* / genetics
  • Tuberous Sclerosis* / diagnosis
  • Tuberous Sclerosis* / epidemiology
  • Tuberous Sclerosis* / genetics

Substances

  • Ribonuclease III
  • DICER1 protein, human
  • DEAD-box RNA Helicases
  • PTEN Phosphohydrolase
  • PTEN protein, human