Impact of vascular anomalies on the PTEN phenotype in children and young adults

Pediatr Blood Cancer. 2020 Jun;67(6):e28258. doi: 10.1002/pbc.28258. Epub 2020 Mar 20.

Abstract

Germline PTEN (phosphatase and tensin homolog) mutations lead to inappropriate cell survival and growth, and a predisposition to multiple cancers. Some patients also have vascular anomalies (VAs), and it is unclear whether these patients have different phenotypes or oncologic risks. We conducted a two-institution retrospective cohort study to better understand the phenotypes of children and young adults with PTEN mutations, and to compare individuals with VA to those without. Almost half of the patients had thyroid tumors and nearly one quarter developed gastrointestinal tumors before 30 years of age. The presence of VA was positively associated with bulky overgrowth but did not appear to modify oncologic risk.

Keywords: PTEN; cancer predisposition; overgrowth; vascular anomaly; vascular malformation.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Gastrointestinal Neoplasms / etiology
  • Gastrointestinal Neoplasms / genetics
  • Gastrointestinal Neoplasms / pathology*
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation*
  • Neovascularization, Pathologic / complications*
  • PTEN Phosphohydrolase / genetics*
  • Phenotype
  • Prognosis
  • Retrospective Studies
  • Thyroid Neoplasms / etiology
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / pathology*
  • Vascular Malformations / complications*
  • Young Adult

Substances

  • PTEN Phosphohydrolase
  • PTEN protein, human