Complex evaluation of genetic factors effect on prognosisin primary myelofrobrosis

Correlation of some genetic aberrations in tumor cells with the survival of primary myelofibrosispatients and the wide prevalence of combined genomic lesions require new prognostic models. Weanalyzed the effect of karyotype, driver mutations,gene mutations of epigenetic regulation, and theircombination on overall survival among 110 patientsdiagnosed with primary myelofibrosis. Detrimentalinfluence of high-risk karyotype, triple-negative status and nonsense and frameshift mutations of ASXL1gene was shown. Medians of overall survival weresignificantly different in groups formed by complex characteristics “presence of a driver mutation/ASXL1 status” and “karyotypeMSYLf status”. Theshortest survival was observed in triple-negative patients with a mutation in the ASXL1 gene (median0.9 years). Among patients with available karyotypeof tumor cells, the detection of high-risk chromosomal aberrations and/or mutations in the ASXL1gene worsened the prognosis equally. Obtained datacan be used to stratify patients at risk groups in addition to the available prognostic scales.