Abstract
Ataxia-telangiectasia is a rare autosomal recessive neurodegenerative disease characterized by ataxia, radiosensitivity, telangiectases, and increased risk for hematologic malignancies. We present a case of a female individual diagnosed with T-cell acute lymphocytic leukemia at 13 years and subsequently with αβ subtype of hepatosplenic T-cell lymphoma (HSTCL) at 20 years. During her diagnostic work up for HSTCL, paired tumor-germline sequencing identified a diagnosis of ataxia-telangiectasia. We also describe a very refractory clinical course of her αβ HSTCL, including only a brief response to multiagent chemotherapy and an allogenic bone marrow transplant.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
MeSH terms
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Adolescent
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Adult
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use
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Ataxia Telangiectasia / complications*
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Female
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Humans
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Liver Neoplasms / drug therapy
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Liver Neoplasms / etiology
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Liver Neoplasms / pathology*
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Lymphoma, T-Cell / drug therapy
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Lymphoma, T-Cell / etiology
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Lymphoma, T-Cell / pathology*
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Neoplasms, Second Primary / drug therapy
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Neoplasms, Second Primary / etiology
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Neoplasms, Second Primary / pathology*
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Prognosis
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Receptors, Antigen, T-Cell, alpha-beta / immunology*
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Splenic Neoplasms / drug therapy
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Splenic Neoplasms / etiology
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Splenic Neoplasms / pathology*
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Young Adult
Substances
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Receptors, Antigen, T-Cell, alpha-beta