Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse

J Pediatr Hematol Oncol. 2013 May;35(4):308-10. doi: 10.1097/MPH.0b013e31828fccdf.

Abstract

Ataxia-telangiectasia (A-T) is an autosomal recessive disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, a high incidence of lymphoreticular tumors, and an increased sensitivity to chemoradiotherapy-induced DNA damage. The appropriate cancer therapy remains unknown because of high toxicity rates with full-dose conventional protocols. We present a patient with A-T and nephroblastoma, who received an adapted treatment regimen. To our knowledge this is the second report on nephroblastoma in a patient with A-T but the first with confirmed premortem studies. Although the patient tolerated the chemotherapy regimen well, the patient relapsed and died a year after initial diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Ataxia Telangiectasia / complications*
  • Ataxia Telangiectasia / drug therapy
  • Ataxia Telangiectasia / radiotherapy
  • Ataxia Telangiectasia / therapy*
  • Child, Preschool
  • Fatal Outcome
  • Female
  • Humans
  • Kidney Neoplasms / complications*
  • Kidney Neoplasms / drug therapy
  • Kidney Neoplasms / radiotherapy
  • Kidney Neoplasms / therapy*
  • Wilms Tumor / complications*
  • Wilms Tumor / drug therapy
  • Wilms Tumor / radiotherapy
  • Wilms Tumor / therapy*