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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Strasser, B; Mustafa, S; Steindl, R; Heibl, S; Mandl, J; Lirk, G; Haushofer, A.
The impact of mutational burden, spliceosome and epigenetic regulator mutations on transfusion dependency in dysplastic neoplasms
J LAB MED. 2025;
Doi: 10.1515/labmed-2024-0175
Web of Science
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- Co-authors Med Uni Graz
- Haushofer Alexander
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- Abstract:
- Objectives Myelodysplastic neoplasms and dysplastic chronic myelomonocytic leukemia are characterized by cytopenia. Therefore, transfusion dependency is high in these dysplastic neoplasms. We investigated the impact of molecular genetics on the transfusion dependency in dysplastic neoplasms.Methods We investigated the impact of the myeloid mutation burden on transfusion dependency in myelodysplastic neoplasms and dysplastic chronic myelomonocytic leukemia. In addition, the effect of different functional genetic groups, such as spliceosomes and epigenetic regulator gene mutations, on transfusion dependency was assessed in these patients. Confounding transfusion triggers were ruled out by the patient selection criteria and regression analyses.Results A greater number of mutations lead to a higher transfusion dependency for red blood cells and platelet concentrates. A higher transfusion dependency was associated with a higher transformation to acute myeloid leukemia. Spliceosome mutations were associated with a higher transfusion dependency of red blood cell concentrates than epigenetic regulator mutations.Conclusions Molecular genetics has the potential to improve the precision of patient blood management in dysplastic neoplasms.
- Find related publications in this database (Keywords)
- chronic myelomonocytic leukemia (CMML)
- myelodysplastic neoplasm (MDS)
- transfusion
- spliceosome mutation
- epigenetic regulator mutation
- next-generation sequencing (NGS)