Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma

J Pediatr. 2009 Sep;155(3):435-8. doi: 10.1016/j.jpeds.2009.02.037.

Abstract

We report on 2 brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. They both had ataxia with cerebellar atrophy and mental retardation. They had the same mutation of the MRE11 gene, which has not been reported previously (c.727T>C and g.24994G>A).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / diagnosis
  • Adenocarcinoma / drug therapy
  • Adenocarcinoma / genetics*
  • Adenocarcinoma / radiotherapy
  • Adolescent
  • Antineoplastic Agents / therapeutic use
  • Ataxia Telangiectasia / diagnosis
  • Ataxia Telangiectasia / genetics*
  • Autopsy
  • CA-125 Antigen / blood
  • Carboplatin / therapeutic use
  • Child
  • Combined Modality Therapy
  • DNA-Binding Proteins / genetics
  • Docetaxel
  • Drug Therapy, Combination
  • Fatal Outcome
  • Humans
  • Lung Neoplasms / diagnosis
  • Lung Neoplasms / drug therapy
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / radiotherapy
  • MRE11 Homologue Protein
  • Male
  • Mutation
  • Siblings
  • Taxoids / therapeutic use

Substances

  • Antineoplastic Agents
  • CA-125 Antigen
  • DNA-Binding Proteins
  • MRE11 protein, human
  • Taxoids
  • Docetaxel
  • Carboplatin
  • MRE11 Homologue Protein