Open AccessHepatosplenic αβ T-Cell Lymphoma as Second Malignancy in Young Adult Patient With Previously Undiagnosed Ataxia-Telangiectasia
Author(s) -
Michelle F. Jacobs,
Bailey Anderson,
Valerie P. Opipari,
Rajen Mody
Publication year - 2019
Publication title -
journal of pediatric hematology/oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.388
H-Index - 78
eISSN - 1536-3678
pISSN - 1077-4114
DOI - 10.1097/mph.0000000000001537
Subject(s) - medicine , ataxia telangiectasia , telangiectases , lymphoma , malignancy , telangiectasia , pathology , dermatology , dna , genetics , dna damage , biology
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.