T cell ALL in a child with Ataxia telangiectasia; diagnosis and management challenges

Hematology. 2021 Dec;26(1):348-354. doi: 10.1080/16078454.2021.1908725.

Abstract

Ataxia telangiectasia (A-T) is a rare childhood autosomal recessive neurodegenerative chromosomalin stability disorder. It is characterized by high risk of hematological malignancies with T-cell phenotype being the most common, which can present first before the diagnosis of A-T made. The chromosomalin stability in A-T increases the toxicity to radio-chemotherapeutic agents, creating the treatment modification challenges and the deviation from the optimal management protocols. In this case report, we present a 14-month-old boy diagnosed as T cell -ALL. Based on his early presentation, family history of childhood lymphoma, and high AFP, inherited predisposition was suspected, and genetic testing confirms A-T. This report represents the crucial part of clinical suspicion of A-T in similar cases as well as highlighting the importance of an early A-T diagnosis that prevents toxic death due to the extensive regimen of radio- chemotherapeutic agents. The report summarizes the toxicity and modification challenges during management with literature review for the chemotherapy modification experience in such cases.

Keywords: T cell ALL; ataxia telangiectasia; chemotherapy modification.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / adverse effects
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
  • Antineoplastic Combined Chemotherapy Protocols / toxicity
  • Ataxia Telangiectasia / complications*
  • Brain / drug effects
  • Brain / pathology
  • Disease Management
  • Humans
  • Infant
  • Male
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / complications*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / diagnosis
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / therapy*