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ASXL1 gene alterations in patients with isolated 20q deletion

J. Brezinova, I. Sarova, K. Svobodova, H. Lhotska, S. Ransdorfova, S. Izakova, L. Pavlistova, L. Lizcova, K. Skipalova, L. Hodanova, J. Markova, Z. Zemanova, J. Cermak, A. Jonasova, K. Michalova

. 2019 ; 66 (4) : 627-630. [pub] 20190723

Language English Country Slovakia

Document type Journal Article

Persistent link   https://www.medvik.cz/link/bmc19034717

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.

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$a ASXL1 gene alterations in patients with isolated 20q deletion / $c J. Brezinova, I. Sarova, K. Svobodova, H. Lhotska, S. Ransdorfova, S. Izakova, L. Pavlistova, L. Lizcova, K. Skipalova, L. Hodanova, J. Markova, Z. Zemanova, J. Cermak, A. Jonasova, K. Michalova
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$a 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.
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$a lidské chromozomy, pár 20 $x genetika $7 D002890
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$a Lhotská, Halka $7 xx0276414 $u Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
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$a Ransdorfová, Šárka $7 xx0128449 $u Department of Cytogenetics, Institute of Hematology and Blood Transfusion, Prague, Czech Republic
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$a Izáková, Silvia $7 xx0118841 $u Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
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$a Pavlištová, Lenka $7 xx0128185 $u Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
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$a Skipalova, K $u Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
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$a Čermák, Jaroslav, $d 1954- $7 xx0053072 $u Clinical Department, Institute of Hematology and Blood Transfusion, Prague, Czech Republic
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