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

J Pediatr Hematol Oncol. 2021 Jan;43(1):e138-e140. doi: 10.1097/MPH.0000000000001672.


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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Ataxia Telangiectasia / diagnosis*
  • Ataxia Telangiectasia / etiology
  • Ataxia Telangiectasia Mutated Proteins / genetics*
  • Combined Modality Therapy
  • Female
  • Humans
  • Mutation*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / complications*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / pathology
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / therapy
  • Prognosis
  • Retrospective Studies


  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins