Current Advances in the Diagnosis and Treatment of Major Myeloproliferative Neoplasms

Abstract

Myeloproliferative neoplasms (MPNs) are a group of rare blood cancers characterized by the excessive production of blood cells in the bone marrow. These disorders arise from acquired genetic driver mutations, with or without underlying genetic predispositions, resulting in the uncontrolled production of red blood cells, white blood cells, or platelets. The excessive cell production and abnormal signaling from driver mutations cause chronic inflammation and a higher risk of blood clots and vascular complications. The primary goals of MPN treatment are to induce remission, improve quality of life and survival, as well as to reduce the risk of complications such as thrombosis, vascular events, and leukemic transformation. This review provides a comprehensive update on the diagnosis and therapeutic advancements in major MPN subtypes, including chronic myeloid leukemia, polycythemia vera, essential thrombocythemia, and primary myelofibrosis. It examines these complex diseases from a molecular and evolutionary perspective, highlighting key clinical trials' long-term follow-up and therapies targeting driver mutations that have transformed treatment strategies. Additionally, several important advancements in addressing challenges such as anemia in myelofibrosis, along with promising emerging therapies, are also discussed.

Keywords: Janus kinase 2 (JAK2); chronic myeloid leukemia (CML); cytogenetics response (CyR); essential thrombocythemia (ET); fusion gene between the breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1 (BCR::ABL1); minimal residual disease (MRD; molecular response (MR); myeloproliferative neoplasms (MPNs); polycythemia vera (PV); primary myelofibrosis (PMF).