Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Int J Lab Hematol. 2021 Jul;43 Suppl 1:78-81. doi: 10.1111/ijlh.13565.
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).
费城染色体阴性骨髓增殖性肿瘤（MPN）包括真性红细胞增多症（PV）、原发性血小板增多症（ET）和原发性骨髓纤维化（PMF）。MPN 可转化为加速期或急变期，这与对标准治疗的反应不佳和总体中位生存期低有关。我们报告了一例 PMF 进展患者的有趣病例，并总结了目前关于急变期骨髓增殖性肿瘤（MPN-BP）的遗传特征的研究，重点是 PMF。虽然 MPN-BP 在外周血或骨髓中出现≥20%的原始细胞，但根据世界卫生组织（WHO）分类，它不被视为急性髓系白血病（AML）。虽然 MPNs-BP 通常缺乏新发性 AML 中所见的基因突变，但它们通常存在 IDH1/2、SRSF2、ASXL1 和 TP53 突变，与伴有骨髓增生异常相关改变的急性髓系白血病（AML-MRC）的遗传特征相似。
