Myelodysplastic Syndrome with Mutated SF3B1

Preferred Label : Myelodysplastic Syndrome with Mutated SF3B1;

NCIt synonyms : MDS-SF3B1; Myelodysplastic Neoplasm with Low Blasts and SF3B1 Mutation; Myelodysplastic Syndrome with Ringed Sideroblasts;

NCIt definition : Myelodysplastic syndrome characterized by mutation of SF3B1 gene. There is bone marrow dysplasia typically in one or more hematopoietic cell lineages. There are less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1907914;

Details

Origin ID

C198587;

Disease may have findings
- Hypercellular Bone Marrow [NCIt concept]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Myeloid Cell [NCIt concept]
disease_has_finding
- Bone Marrow Dysplasia Present [NCIt concept]
- Ineffective Hematopoiesis [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Myeloblasts Under 2 Percent of Peripheral Blood White Cells [NCIt concept]
- Myeloblasts Under 20 Percent of Bone Marrow Nucleated Cells [NCIt concept]
- Myeloblasts Under 20 Percent of Peripheral Blood White Cells [NCIt concept]
- Myeloblasts Under 5 Percent of Bone Marrow Nucleated Cells [NCIt concept]
- Recurrent Genetic Abnormalities Present [NCIt concept]
disease_has_molecular_abnormality
- SF3B1 Gene Mutation [NCIt concept]
- Somatic Variation [NCIt concept]
disease_has_normal_cell_origin
- Bone Marrow Stem Cell [NCIt concept]
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic Tissue [NCIt concept]
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- SF3B1 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- SF3B1 Gene [NCIt concept]
- SF3B1 wt Allele [NCIt concept]

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