Definitions, Biology, and Current Therapeutic Landscape of Myelodysplastic/Myeloproliferative Neoplasms

Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hematological disorders characterized by both proliferative and dysplastic features. According to the 2022 International Consensus Classification (ICC), MDS/MPN consists of clonal monocytosis undetermined significance (CMUS), chronic myelomonocytic leukemia (CMML), atypical myeloid (aCML), with SF3B1 mutation (MDS/MPN-T-SF3B1), ring sideroblasts thrombocytosis not otherwise specified (MDS/MPN-RS-T-NOS), MDS/MPN-NOS. These exhibit a diverse range genetic alterations involving various transcription factors (e.g., RUNX1), signaling molecules NRAS, JAK2), splicing SF3B, SRSF2), epigenetic regulators TET2, ASXL1, DNMT3A), as well specific cytogenetic abnormalities 8 trisomies, 7 deletions/monosomies). Clinical studies exploring therapeutic options for higher-risk overlap syndromes mostly involve hypomethylating agents, but other treatments such lenalidomide targeted agents JAK inhibitors targeting PARP, histone deacetylases, Ras pathway under investigation. While these treatment modalities can provide partial disease control, allogeneic bone marrow transplantation (allo-BMT) is only potentially curative option patients. Important prognostic correlating outcomes after allo-BMT include comorbidities, splenomegaly, karyotype alterations, blasts percentage at time transplantation. Future research imperative optimizing strategies enhancing patient in neoplasms. In this review, we summarize diagnostic criteria, biology, current future options, including