Telomere attrition and candidate gene mutations preceding monosomy 7 in aplastic anemia

Blood. 2015 Jan 22;125(4):706-9. doi: 10.1182/blood-2014-10-607572. Epub 2014 Nov 18.

Abstract

The pathophysiology of severe aplastic anemia (SAA) is immune-mediated destruction of hematopoietic stem and progenitor cells (HSPCs). Most patients respond to immunosuppressive therapies, but a minority transform to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), frequently associated with monosomy 7 (-7). Thirteen SAA patients were analyzed for acquired mutations in myeloid cells at the time of evolution to -7, and all had a dominant HSPC clone bearing specific acquired mutations. However, mutations in genes associated with MDS/AML were present in only 4 cases. Patients who evolved to MDS and AML showed marked progressive telomere attrition before the emergence of -7. Single telomere length analysis confirmed accumulation of short telomere fragments of individual chromosomes. Our results indicate that accelerated telomere attrition in the setting of a decreased HSPC pool is characteristic of early myeloid oncogenesis, specifically chromosome 7 loss, in MDS/AML after SAA, and provides a possible mechanism for development of aneuploidy.

Publication types

  • Clinical Trial
  • Research Support, N.I.H., Intramural

MeSH terms

  • Anemia, Aplastic / genetics*
  • Anemia, Aplastic / metabolism
  • Anemia, Aplastic / pathology
  • Chromosome Deletion
  • Chromosomes, Human, Pair 7 / genetics
  • Chromosomes, Human, Pair 7 / metabolism
  • Female
  • Hematopoietic Stem Cells*
  • Humans
  • Leukemia, Myeloid, Acute / genetics
  • Leukemia, Myeloid, Acute / metabolism
  • Leukemia, Myeloid, Acute / pathology
  • Male
  • Myelodysplastic Syndromes / genetics
  • Myelodysplastic Syndromes / metabolism
  • Myelodysplastic Syndromes / pathology
  • Telomere Homeostasis*

Supplementary concepts

  • Chromosome 7, monosomy