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

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalJournal of Pediatric Hematology/Oncology
DOIs
StateAccepted/In press - Jan 1 2019

Keywords

  • Ataxia-telangiectasia
  • ATM mutation
  • Breast cancer
  • mild neurological dysfunction
  • T-cell leukemia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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