Deletion 20q is a recurrent abnormality in myeloid malignancies. In our previous study, we identified fusion of the additional sex combs-like 1 (ASXL1) and teashirt zinc finger homeobox 2 genes in a patient with myelodysplastic syndrome. The objective of this study was to determine the frequency of ASXL1 breakpoints in a cohort of 36 patients with deletion 20q as the sole cytogenetic aberration. A combination of molecular cytogenetic methods was used to confirm ASXL1 gene alterations in 19 of the 36 patients, and the determination of ASXL1 gene changes in patients with deletion 20q revealed clinical and prognostic impacts.

1st Medical Department General University Hospital and 1st Faculty of Medicine Charles University Prague Prague Czech Republic

Center of Oncocytogenetics Institute of Medical Biochemistry and Laboratory Diagnostics General University Hospital and 1st Faculty of Medicine Charles University Prague Prague Czech Republic

Clinical Department Institute of Hematology and Blood Transfusion Prague Czech Republic

Department of Cytogenetics Institute of Hematology and Blood Transfusion Prague Czech Republic

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