Clinical radiation sensitivity with DNA repair disorders: an overview

Int J Radiat Oncol Biol Phys. 2009 Aug 1;74(5):1323-31. doi: 10.1016/j.ijrobp.2009.02.057.

Abstract

Adverse reactions to radiotherapy represent a confounding phenomenon in radiation oncology. These reactions are rare, and many have been associated with individuals with DNA repair disorders such as ataxia-telangiectasia and Nijmegen Breakage syndrome. A paucity of published data is available detailing such circumstances. This overview describes four exemplary situations, a comprehensive list of 32 additional cases, and some insights gleaned from this overall experience. Fanconi anemia was associated with more than one-half of the reports. The lowest dose given to a patient that resulted in a reaction was 3 Gy, given to an ataxia-telangiectasia patient. Most patients died within months of exposure. It is clear that the patients discussed in this report had complicated illnesses, in addition to cancer, and the radiotherapy administered was most likely their best option. However, the underlying DNA repair defects make conventional radiation doses dangerous. Our findings support previous wisdom that radiotherapy should either be avoided or the doses should be selected with great care in the case of these radiosensitive genotypes, which must be recognized by their characteristic phenotypes, until more rapid, reliable, and functional assays of DNA repair become available.

Publication types

  • Review

MeSH terms

  • Ataxia Telangiectasia / complications
  • Ataxia Telangiectasia / genetics
  • DNA Ligase ATP
  • DNA Ligases / deficiency
  • DNA Repair-Deficiency Disorders / complications*
  • DNA Repair-Deficiency Disorders / genetics
  • Fanconi Anemia / complications
  • Fanconi Anemia / genetics
  • Female
  • Humans
  • Male
  • Nijmegen Breakage Syndrome / complications
  • Nijmegen Breakage Syndrome / genetics
  • Radiation Injuries / complications*
  • Radiation Injuries / genetics
  • Radiation Injuries / mortality
  • Radiation Tolerance / genetics*
  • Radiotherapy Dosage

Substances

  • DNA Ligases
  • DNA Ligase ATP