New data shed light on Y-loss-related pathogenesis in myelodysplastic syndromes

Genes Chromosomes Cancer. 2015 Dec;54(12):717-24. doi: 10.1002/gcc.22282. Epub 2015 Sep 23.


Loss of the Y-chromosome (LOY) is described as both a normal age-related event and a marker of a neoplastic clone in hematologic diseases. To assess the significance of LOY in myelodysplastic syndromes (MDS), we determined the percentage of LOY in clonal CD34+ peripheral blood cells in comparison to normal CD3+ T-cells of 27 MDS patients using fluorescence in situ hybridization (FISH) analysis. Results were compared with the percentage of LOY in CD34+ and CD3+ cells of 32 elderly men without hematologic diseases and in 25 young blood donors. While LOY could not be detected in CD3+ cells of young men, it was observed in CD3+ cells of elderly men without hematologic diseases (2.5% LOY) as well as in CD3+ cells of elderly MDS patients (5.8% LOY). The percentage of CD34+ cells affected by LOY was significantly higher in MDS patients compared to elderly men without hematologic diseases (43.3% vs. 13.2%, P = 0.005), indicating that LOY has an age-related basis but is also associated with MDS. Furthermore, we aimed to define a threshold between age- and disease-associated LOY in MDS. Statistical analysis revealed that a value of 21.5% LOY in CD34+ peripheral blood cells provided the best threshold to discriminate between these two conditions in MDS. We conclude that LOY is clonal in a substantial number of MDS based on an age-related predisposition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Antigens, CD34 / metabolism
  • Blood Donors
  • CD3 Complex / metabolism
  • Cells, Cultured
  • Chromosome Deletion*
  • Chromosomes, Human, Y / genetics*
  • Clonal Selection, Antigen-Mediated
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Middle Aged
  • Myelodysplastic Syndromes / genetics*
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • Young Adult


  • Antigens, CD34
  • CD3 Complex