ASXL1 gene alterations in patients with isolated 20q deletion
Language English Country Slovakia Media electronic
Document type Journal Article
PubMed
30868899
DOI
10.4149/neo_2018_181010n754
PII: 181010N754
Knihovny.cz E-resources
- MeSH
- Chromosome Deletion * MeSH
- Cytogenetic Analysis MeSH
- Humans MeSH
- Chromosomes, Human, Pair 20 genetics MeSH
- Myelodysplastic Syndromes genetics MeSH
- Repressor Proteins genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Names of Substances
- ASXL1 protein, human MeSH Browser
- Repressor Proteins MeSH
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.
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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