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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:
doi: 10.1097/MPH.0b013e31828fccdf
Clinical and Laboratory Observations
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.

Author Information

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: aperezm.hnjs@salud.madrid.org).

Received August 25, 2011

Accepted March 29, 2012

© 2013 Lippincott Williams & Wilkins, Inc.