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Zaininger, P.
Outcomes of Patients With Primary Myelofibrosis in Relation to Mutation Status
Humanmedizin; [ Diplomarbeit ] Medizinische Universität Graz; 2025. pp. 80
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Authors Med Uni Graz:
Advisor:: Reinisch Andreas; Wölfler Albert
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Abstract:: Background: Since the implementation of next generation sequencing (NGS) as a diagnostic tool for hematological malignancies, various mutations have been identified as risk factors, also in myeloproliferative neoplasms (MPN) like primary myelofibrosis (PMF). Apart from the classical disease driver mutations in the JAK2, CALR and MPL genes, some non-driver mutations (nDM) have been proven to affect the prognosis of PMF patients by impairing overall (OS) - and event-free survival (EFS) as well. Although the pathophysiological role of such mutations is hardly defined, some genetic aberrations in high molecular risk (HMR) genes, like ASXL1, SRSF2 and IDH1/2 have been included in more recent prognostic scores.