title: New data shed light on Y-loss-related pathogenesis in myelodysplastic syndromes.
abstract: 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.
authors.affiliation: Department of Hematology and Medical Oncology, University Medical Center Göttingen, Göttingen, Germany.
authors.forename: Christina
authors.initials: C
authors.lastname: Ganster
authors.affiliation: Praxis für Hämatologie und Onkologie, Lüdenscheid, Germany.
authors.forename: Dietrich
authors.initials: D
authors.lastname: Kämpfe
authors.affiliation: Department of Medical Statistics, University Medical Center Göttingen, Göttingen, Germany.
authors.forename: Klaus
authors.initials: K
authors.lastname: Jung
authors.affiliation: Department of Hematology and Medical Oncology, University Medical Center Göttingen, Göttingen, Germany.
authors.forename: Friederike
authors.initials: F
authors.lastname: Braulke
authors.affiliation: Department of Hematology and Medical Oncology, University Medical Center Göttingen, Göttingen, Germany.
authors.forename: Katayoon
authors.initials: K
authors.lastname: Shirneshan
authors.affiliation: 1st Medical Department with Hematology, Stem Cell Transplantation, Hemostasis and Medical Oncology, Elisabethinen Hospital, Linz, Austria.
authors.forename: Sigrid
authors.initials: S
authors.lastname: Machherndl-Spandl
authors.affiliation: Red Cross Blood Transfusion Service of Upper Austria, Austrian Cluster for Tissue Regeneration, Linz, Austria.
authors.forename: Susanne
authors.initials: S
authors.lastname: Suessner
authors.affiliation: Department of Nephrology and Rheumatology, University Medical Center Göttingen, Göttingen, Germany.
authors.forename: Carsten P
authors.initials: CP
authors.lastname: Bramlage
authors.affiliation: Department of Transfusion Medicine, University Medical Center Göttingen, Göttingen, Germany.
authors.forename: Tobias J
authors.initials: TJ
authors.lastname: Legler
authors.affiliation: Department of Nephrology and Rheumatology, University Medical Center Göttingen, Göttingen, Germany.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Koziolek
authors.affiliation: Department of Hematology and Medical Oncology, University Medical Center Göttingen, Göttingen, Germany.
authors.forename: Detlef
authors.initials: D
authors.lastname: Haase
authors.affiliation: Department of Hematology and Medical Oncology, University Medical Center Göttingen, Göttingen, Germany.
authors.forename: Julie
authors.initials: J
authors.lastname: Schanz
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018952:Antigens, CD34 / Q000378:metabolism; D001782:Blood Donors; D017252:CD3 Complex / Q000378:metabolism; D002478:Cells, Cultured; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D060966:Clonal Selection, Antigen-Mediated; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism; D055815:Young Adult
chemical_list: D018952:Antigens, CD34; D017252:CD3 Complex