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

2015; Wiley; Volume: 54; Issue: 12 Linguagem: Inglês

10.1002/gcc.22282

1098-2264

Christina Ganster, D. Kämpfe, Klaus Jung, Friederike Braulke, Katayoon Shirneshan, Sigrid Machherndl‐Spandl, Susanne Suessner, Carsten Bramlage, Tobias J. Legler, Michael Koziolek, Detlef Haase, Julie Schanz,

Nuclear Structure and Function

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. © 2015 Wiley Periodicals, Inc.