Ptd email setup for outlook3/30/2023 ![]() ![]() The molecular landscape of MDS has not yet been fully elucidated, but recent advances have led to an improvement in the understanding of molecular pathogenesis. Approximately 30% of MDS patients will progress to acute myeloid leukemia (AML). MDS is a disease of the older population with a median age of diagnosis of over 70 years. ![]() Myelodysplastic neoplasms (MDS) are a spectrum of clonal myeloid stem cells malignancies, which are characterized by ineffective hematopoiesis resulting in various degrees of progressive and refractory cytopenia and morphological dysplasia in one or more cell lines (i.e., erythroid, granulocytic, and/or megakaryocytic dysplasia). In this review, we summarize the most common cytogenetic and genomic drivers of MDS and how they impact MDS prognosis and treatment decisions. Comprehensive classification and accurate risk prediction largely depend on the integration of genetic mutations that drive the disease, which is crucial to improve the diagnostic work-up, guide treatment decision making, and direct novel therapeutic options. The IPSS-M is the first model that incorporates molecular data for individual genes and facilitates better prediction of clinical outcome parameters compared to older versions of this model (i.e., overall survival, disease progression, and leukemia-free survival). With the overall goal of classifying patients into relevant disease entities that can aid to predict clinical outcomes and make therapeutic decisions, several MDS classification models (e.g., French–American–British, World Health Organization, and International Consensus Classification) as well as prognostication models (e.g., International Prognostic Scoring system (IPSS), the revised IPSS (IPSS-R), and the molecular IPSS (IPSS-M)), have been developed. Recent advances in unraveling the underlying pathogenesis of MDS have led to the identification of molecular drivers and secondary genetic events. Myelodysplastic neoplasms (MDS) form a broad spectrum of clonal myeloid malignancies arising from hematopoietic stem cells that are characterized by progressive and refractory cytopenia and morphological dysplasia. ![]()
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