Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.

Sei-Gyung K Sze, Howard M Lederman, Thomas O Crawford, Michael F Wangler, Andrea M Lewis, Michael B Kastan, Harpreet K Dibra, Alexander M R Taylor, Daniel S Wechsler

Journal of pediatric hematology/oncology 2021 Jan

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Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive cerebellar degeneration that is typically diagnosed in early childhood. A-T is associated with a predisposition to malignancies, particularly lymphoid tumors in childhood and early adulthood. An adolescent girl with minimal neurologic symptoms was diagnosed with A-T 8 years after completing therapy for T-cell acute lymphoblastic leukemia, following a diagnosis of ATM-mutated breast cancer in her mother. We highlight the importance of recognizing ATM mutations in T-cell acute lymphoblastic leukemia, appreciating the phenotypic heterogeneity of A-T, and defining optimal cancer screening in A-T patients.

Citation

Sei-Gyung K Sze, Howard M Lederman, Thomas O Crawford, Michael F Wangler, Andrea M Lewis, Michael B Kastan, Harpreet K Dibra, Alexander M R Taylor, Daniel S Wechsler. Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia. Journal of pediatric hematology/oncology. 2021 Jan;43(1):e138-e140