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Comparing MPN Mutational Profiles

Am J Clin Pathol; ePub 2017 Apr 15; Song, et al

Distinguishing between myeloproliferative neoplasms can be helped by the varying mutation profiles exhibited by primary myelofibrosis (PMF), polycythemia vera (PV), and essential thrombocytosis (ET), according to a study involving 135 individuals.

Investigators compared next-generation sequencing results of participants with PMF (n=75), PV (n=33), and ET (n=27). Among the results:

  • Mutation rates of ASXL1 and SRSF2 were significantly higher in PMF.
  • ASXL1 mutations seemed to be more frequently linked with risk of transitioning to acute myeloid leukemia than were JAK2 or TET2 mutations.
  • The most common mutation-cytogenetic combinations were mutations of JAK2 or ASXL1 with del(20q); these occurred more frequently in patients with PMF and PV.
  • Differences were also found between patients with PMF and PV.


Song J, Hussaini M, Zhang H, et al. Comparison of the mutational profiles of primary myelofibrosis, polycythemia vera, and essential thrombocytosis. [Published online ahead of print April 15, 2017]. Am J Clin Pathol. doi:10.1093/ajcp/aqw222.