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 language | English (US) |
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Pages (from-to) | 78-81 |
Number of pages | 4 |
Journal | International Journal of Laboratory Hematology |
Volume | 43 |
Issue number | S1 |
DOIs | |
State | Published - Jul 2021 |
Keywords
- BCR-ABL (Philadelphia)-negative myeloproliferative neoplasm
- Myeloproliferative neoplasm blast phase (MPN-BP)
- TP53
- leukemic transformation
ASJC Scopus subject areas
- Hematology
- Clinical Biochemistry
- Biochemistry, medical