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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Sze, S-GK; Lederman, HM; Crawford, TO; Wangler, MF; Lewis, AM; Kastan, MB; Dibra, HK; Taylor, AMR; Wechsler, DS

Published Date

  • January 2021

Published In

Volume / Issue

  • 43 / 1

Start / End Page

  • e138 - e140

PubMed ID

  • 31743320

Electronic International Standard Serial Number (EISSN)

  • 1536-3678

Digital Object Identifier (DOI)

  • 10.1097/MPH.0000000000001672


  • eng

Conference Location

  • United States