Myelodysplastic syndrome with isocitrate dehydrogenase-1 (IDH1) mutation

Myelodysplastic syndrome with an isocitrate dehydrogenase-1 (IDH1) mutation is a genetically defined subtype of clonal hematologic malignancy affecting the bone marrow and peripheral blood system, typically presenting in older adults Pathophysiologically, somatic mutations in the *IDH1* gene confer neomorphic enzyme activity that produces the oncometabolite D-2-hydroxyglutarate (2-HG), causing DNA and histone hypermethylation that disrupts epigenetic regulation and arrests normal myeloid progeni...

Myelodysplastic syndrome with an isocitrate dehydrogenase-1 (IDH1) mutation is a genetically defined subtype of clonal hematologic malignancy affecting the bone marrow and peripheral blood system, typically presenting in older adults It is characterized by ineffective hematopoiesis, peripheral cytopenias (such as anemia, neutropenia, and thrombocytopenia), morphological dysplasia, and an elevated risk of progression to acute myeloid leukemia

Myelodysplastic syndrome with an isocitrate dehydrogenase-1 (IDH1) mutation is a genetically defined subtype of clonal hematologic malignancy affecting the bone marrow and peripheral blood system, typically presenting in older adults Pathophysiologically, somatic mutations in the *IDH1* gene confer neomorphic enzyme activity that produces the oncometabolite D-2-hydroxyglutarate (2-HG), causing DNA and histone hypermethylation that disrupts epigenetic regulation and arrests normal myeloid progeni...

It is characterized by ineffective hematopoiesis, peripheral cytopenias (such as anemia, neutropenia, and thrombocytopenia), morphological dysplasia, and an elevated risk of progression to acute myeloid leukemia

Pathophysiologically, somatic mutations in the *IDH1* gene confer neomorphic enzyme activity that produces the oncometabolite D-2-hydroxyglutarate (2-HG), causing DNA and histone hypermethylation that disrupts epigenetic regulation and arrests normal myeloid progenitor cell differentiation