Myelodysplastic/Myeloproliferative Neoplasm with SF3B1 Mutation and Thrombocytosis

Preferred Label : Myelodysplastic/Myeloproliferative Neoplasm with SF3B1 Mutation and Thrombocytosis;

NCIt synonyms : MDS/MPN-T-SF3B1;

NCIt definition : A myelodysplastic/myeloproliferative neoplasm characterized by thrombocytosis, anemia, blasts less than 5% in bone marrow and less than 1% in peripheral blood, presence of SF3B1 gene mutation, absence of BCR/ABL fusion, absence of genetic abnormalities associated with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions, and no history of other myelodysplastic/myeloproliferative neoplasms or myeloproliferative neoplasms and myelodysplastic syndromes.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1905764;

Details

Origin ID

C198581;

Disease excludes abnormal cell
- Toxic Neutrophil [NCIt concept]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
disease_excludes_cytogenetic_abnormality
- Philadelphia Chromosome [NCIt concept]
- t(9;22)(q34.1;q11.2) [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Extramedullary Hematopoiesis [NCIt concept]
disease_excludes_molecular_abnormality
- BCR-ABL1 Fusion Protein Expression [NCIt concept]
- Tyrosine Kinase Gene Fusion [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_associated_disease
- Anemia [NCIt concept]
disease_has_finding
- Blasts Under 20 Percent of Bone Marrow Nucleated Cells [NCIt concept]
- Blasts Under 20 Percent of Peripheral Blood White Cells [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Myeloblasts Under 1 Percent of Peripheral Blood White Cells [NCIt concept]
- Myeloblasts Under 5 Percent of Bone Marrow Nucleated Cells [NCIt concept]
- Thrombocytosis [NCIt concept]
disease_has_molecular_abnormality
- SF3B1 Gene Mutation [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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