Elevated Radiation Therapy Toxicity in the Setting of Germline PTEN Mutation

Pract Radiat Oncol. 2019 Nov;9(6):492-495. doi: 10.1016/j.prro.2019.06.001. Epub 2019 Jun 8.

Abstract

Cells that lack PTEN function are radiation sensitive in cell culture-based experimental systems; therefore, patients with Cowden Syndrome (CS) may carry an increased risk for normal tissue injury after radiotherapy. Here we present the first such case of a patient with genetically-confirmed CS who, indeed, experienced greater than expected toxicity following two separate courses of radiotherapy. While a causal relationship between CS and radiation sensitivity remains unclear, this observation suggests the need for further study in larger cohorts of CS patients.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Germ-Line Mutation / genetics*
  • Humans
  • PTEN Phosphohydrolase / genetics*
  • Radiation Injuries / genetics*

Substances

  • PTEN Phosphohydrolase
  • PTEN protein, human