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[The role of driver and subclonal mutations in pathogenesis of primary myelofibrosis]

Réka Mózes1, Ambrus Gángó2, Zsófia Boha2

  • 1I. Sz. Patológiai és Kísérleti Rákkutató Intézet, Semmelweis Egyetem, Budapest, Hungary. mozesreka@yahoo.com.

Magyar Onkologia
|March 9, 2017
PubMed

Insights

Primary myelofibrosis (PMF) is a Philadelphia chromosome-negative neoplasm. Specific genetic mutations, like CALR-/ASXL1+, indicate poor survival and guide treatment decisions for PMF patients.

Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • Primary myelofibrosis (PMF) is a progressive, Philadelphia chromosome-negative clonal myeloproliferative neoplasm.
  • Bone marrow biopsies reveal abnormal megakaryocyte proliferation and fibrosis in PMF.
  • Key diagnostic criteria include driver mutations: JAK2 V617F, CALR, and MPL.

Purpose of the Study:

  • To explore the prognostic significance of subclonal mutations in PMF progression.
  • To identify specific genotypes associated with adverse survival outcomes.
  • To evaluate the role of molecular risk in guiding treatment, such as stem cell transplantation.

Main Methods:

  • Analysis of the molecular landscape of PMF, focusing on driver and subclonal mutations.
  • Correlation of specific genotypes (e.g., triple negative, high molecular risk, CALR-/ASXL1+) with patient survival.
  • Assessment of the impact of molecular risk on treatment decisions, including stem cell transplantation, independent of existing scores like DIPSS-plus.

Main Results:

  • Subclonal mutations in genes such as ASXL1, TET2, IDH1/2, EZH2, and TP53 have prognostic value in PMF.
  • Triple negative genotype and high molecular risk genotype are linked to adverse survival.
  • The CALR-/ASXL1+ genotype signifies adverse survival and suggests stem cell transplantation regardless of DIPSS-plus score.

Conclusions:

  • Molecular profiling is crucial for understanding PMF prognosis.
  • Identifying high-risk genotypes like CALR-/ASXL1+ can personalize treatment strategies.
  • Stem cell transplantation may be indicated for PMF patients with specific adverse molecular markers, irrespective of traditional scoring systems.

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