Telomere elongation and clinical response to androgen treatment in a patient with aplastic anemia and a heterozygous hTERT gene mutation

Ann Hematol. 2012 Jul;91(7):1115-20. doi: 10.1007/s00277-012-1454-x. Epub 2012 Apr 4.


Telomere length (TL) both reflects and limits the replicative life span of normal somatic cells. As a consequence, critically shortened telomeres are associated with a variety of disease states. Telomere attrition can be counteracted by a nucleoprotein complex containing telomerase. Mutations in subunits of telomerase, telomerase-binding proteins as well as in members of the shelterin complex have been described both in inherited and acquired bone marrow failure syndromes. Here, we report on a patient with acquired aplastic anemia and a nonsynonymous variation of codon 1062 of the hTERT gene (p.Ala1062Thr) whose substantial and maintained hematologic response to long-term androgen treatment (including complete transfusion independence) was paralleled by a significant and continued increase in TL in multilineage peripheral blood cells. To our knowledge, this represents the first case of sustained telomere elongation in hematopoietic stem cells induced by a pharmacological approach in vivo (141 words).

Publication types

  • Case Reports

MeSH terms

  • Androgens / therapeutic use*
  • Anemia, Aplastic / diagnosis
  • Anemia, Aplastic / drug therapy*
  • Anemia, Aplastic / genetics
  • Anemia, Aplastic / metabolism
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Telomerase / genetics*
  • Telomere / metabolism*
  • Treatment Outcome


  • Androgens
  • TERT protein, human
  • Telomerase