A case of a primary myelofibrosis with progression and related literature review of progression phase genetics

Research output: Contribution to journalReview articlepeer-review

Abstract

Philadelphia (BCR-ABL)-negative myeloproliferative neoplasms (MPNs) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). MPN can transform into an accelerated or a blast phase, which is associated with poor response to standard therapy and low overall median survival. We present an interesting case of a patient with a history of PMF and progression and summarize the current studies on genetic features of myeloproliferative neoplasms in blast phase (MPN-BP) with an emphasis on PMF. Although MPN-BP show ≥20% blasts in peripheral blood or bone marrow, it is not considered as acute myeloid leukemia (AML) according to the WHO classification. While MPNs-BP typically lack genetic mutations seen in de novo AML, they commonly harbor IDH1/2, SRSF2, ASXL1, and TP53 mutations, similar to the genetic profiles of acute myeloid leukemia with myelodysplasia-related changes (AML-MRC).

Original languageEnglish (US)
Pages (from-to)78-81
Number of pages4
JournalInternational Journal of Laboratory Hematology
Volume43
Issue numberS1
DOIs
StatePublished - Jul 2021

Keywords

  • BCR-ABL (Philadelphia)-negative myeloproliferative neoplasm
  • leukemic transformation
  • Myeloproliferative neoplasm blast phase (MPN-BP)
  • TP53

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Biochemistry, medical

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