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Genomic profiling for decision-making in post-polycythemia vera and post-essential thrombocythemia myelofibrosis - PubMed

5 days ago
  • #prognostic model
  • #genomic profiling
  • #myelofibrosis
  • Secondary myelofibrosis (SMF) is a late stage of polycythemia vera and essential thrombocythemia.
  • The MYelofibrosis SECondary to PV and ET (MYSEC) Prognostic Model (MYSEC-PM) defines overall survival (OS) in SMF.
  • Next-generation sequencing panel testing in 644 patients identified ASXL1, TET2, and DNMT3A as the most frequent cancer gene variants (CGVs).
  • Specific molecular profiles (U2AF1, TP53, SRSF2 variants) significantly affect OS, with median OS ranging from 4.1 to 8.4 years.
  • The MYSEC-molecular prognostic model (MYSEC-mPM) categorizes SMF patients into four risk groups with distinct OS outcomes.
  • Incorporating cytogenetics (complex/monosomal karyotype) further enhances survival prediction via the karyotype-enhanced MYSEC-kmPM.
  • Genomic and cytogenetic profiling improves SMF survival prediction beyond the MYSEC-PM.