Title

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

Document Type

Article

Publication Date

11-14-2019

Institution/Department

Pediatrics, Oncology

Journal Title

Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology

MeSH Headings

Humans, Adolescent, Ataxia Telangiectasia, Retrospective Studies, Leukemia, T-Cell

Abstract

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 neurological 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.

ISSN

1536-3678

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