title: Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse.
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.
authors.affiliation: Divisions of Paediatric Haematology and Oncology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Pérez-Villena
authors.forename: María
authors.initials: M
authors.lastname: Cormenzana
authors.forename: Inmaculada
authors.initials: I
authors.lastname: de Prada
authors.forename: Antonio
authors.initials: A
authors.lastname: Pérez-Martínez
authors.forename: Esther
authors.initials: E
authors.lastname: Aleo
mesh_terms: D001260:Ataxia Telangiectasia / Q000150:complications* / Q000188:drug therapy / Q000532:radiotherapy / Q000628:therapy*; D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications* / Q000188:drug therapy / Q000532:radiotherapy / Q000628:therapy*; D009396:Wilms Tumor / Q000150:complications* / Q000188:drug therapy / Q000532:radiotherapy / Q000628:therapy*