期刊
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
卷 35, 期 4, 页码 308-310出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MPH.0b013e31828fccdf
关键词
ataxia-telangiectasia; Wilms tumor; radiotherapy
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.
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