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Annals of Hematology

, Volume 91, Issue 7, pp 1115–1120 | Cite as

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

  • Patrick Ziegler
  • Hubert Schrezenmeier
  • Jamil Akkad
  • Ute Brassat
  • Lucia Vankann
  • Jens Panse
  • Stefan Wilop
  • Stefan Balabanov
  • Klaus Schwarz
  • Uwe M. Martens
  • Tim H. BrümmendorfEmail author
Original Article

Abstract

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).

Keywords

Telomere Telomerase Bone marrow failure Aplastic anemia Androgen treatment 

Notes

Conflict of interest

None

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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Patrick Ziegler
    • 1
  • Hubert Schrezenmeier
    • 2
    • 3
  • Jamil Akkad
    • 4
  • Ute Brassat
    • 5
  • Lucia Vankann
    • 1
  • Jens Panse
    • 1
  • Stefan Wilop
    • 1
  • Stefan Balabanov
    • 5
  • Klaus Schwarz
    • 2
    • 3
  • Uwe M. Martens
    • 4
  • Tim H. Brümmendorf
    • 1
    Email author
  1. 1.Department of Oncology, Hematology and Stem Cell TransplantationUniversity Hospital Aachen, RWTH Aachen UniversityAachenGermany
  2. 2.Institut für Klinische Transfusionsmedizin und Immungenetik Ulm, DRK Blutspendedienst Baden-Württemberg – HessenFrankfurtGermany
  3. 3.Institut für TransfusionsmedizinUniversität UlmUlmGermany
  4. 4.Department of Hematology and Oncology, Cancer Center Heilbronn-FrankenSLK KlinikenHeilbronnGermany
  5. 5.Klinik für Onkologie, Hämatologie und Knochenmarktransplantation mit Sektion Pneumologie, Universitäres Cancer Center Hamburg (UCCH)Universitäts-Klinikum Hamburg-EppendorfHamburgGermany

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