Institutional members access full text with Ovid®

Share this article on:

Ataxia-Telangiectasia and Wilms Tumor: Reduced Treatment But Early Relapse

Pérez-Villena, Ana MD*; Cormenzana, María MD*; Prada, Inmaculada de MD; Pérez-Martínez, Antonio MD, PhD*; Aleo, Esther MD, PhD*

Journal of Pediatric Hematology/Oncology: May 2013 - Volume 35 - Issue 4 - p 308–310
doi: 10.1097/MPH.0b013e31828fccdf
Clinical and Laboratory Observations

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.

Divisions of *Paediatric Haematology and Oncology

Pathology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain

The authors declare no conflict of interest.

Reprints: Antonio Pérez-Martínez, MD, PhD, Division of Paediatric Haematology and Oncology, Hospital Infantil Universitario Niño Jesús, Avenida Menéndez Pelayo 65, Madrid 28009, Spain (e-mail:

Received August 25, 2011

Accepted March 29, 2012

© 2013 Lippincott Williams & Wilkins, Inc.