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• W2052871423 abstract "Ataxia telangiectasia (A-T) is a rare genetic disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, chromosomal instability, and radiation sensitivity (Peterson et al. Lancet 283:1189–1193, 1964; Boder and Sedgwick Pediatrics 21:526–554, 1958; Taylor et al. Nature 258:427–429, 1975). Compared to the general population, patients with primary immunodeficiencies such as A-T have an increased rate of malignancy and an earlier age at presentation (Loeb et al. J Pediatr Hematol/Oncol 22:464–467, 2000; Taylor et al. Blood 87:423–438, 1996). We report the clinical, histopathologic, and molecular features of a 6-year-old child who presented with EBV-positive Hodgkin lymphoma (HL), which led to the diagnosis of ataxia telangiectasia. The diagnosis of HL at this unusually young age prompted further clinical, immunologic and cytogenetic evaluations, all of which supported a diagnosis of A-T. Because A-T patients are exquisitely sensitive to radiation, the patient was put on a modified chemotherapeutic regimen; however, 14 months later, he experienced a relapse and passed away by age 9. Classical HL is relatively rare among A-T patients, and this is the first documented case of an EBER-1 positive Hodgkin lymphoma in an ataxia telangiectasia patient. A review of the literature examining cases of HL in A-T is provided." @default.
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• W2052871423 date "2010-06-15" @default.
• W2052871423 modified "2023-10-14" @default.
• W2052871423 title "Hodgkin lymphoma in a young child contributing to a diagnosis of ataxia telangiectasia: review of the literature" @default.
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• W2052871423 doi "https://doi.org/10.1007/s12308-010-0062-8" @default.
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