Hematologic Neoplasm with Germline RUNX1 Mutation

Preferred Label : Hematologic Neoplasm with Germline RUNX1 Mutation;

NCIt definition : An autosomal dominant syndrome characterized by abnormalities in platelet number and function and enhanced risk of developing myelodysplastic syndrome/acute myeloid leukemia at a young age. Patients have germline monoallelic mutations in RUNX1 gene. The clinical presentation is variable, even within the same family. Most affected individuals have a mild to moderate bleeding tendency. Platelet counts are normal or mildly reduced, with normal platelet morphology and variable degrees of platelet dysfunction. Distinct families with germline RUNX1 mutations exhibit varying risks of development of myeloid neoplasms with 11-100% (median: 44%) of family members affected. (WHO 2017);

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL553246;

Details

Origin ID

C151903;

UMLS CUI

C4726544;

Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
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_associated_disease
- Platelet Disorder [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Thrombocytopenia [NCIt concept]
disease_has_molecular_abnormality
- Germline RUNX1 Gene Mutation [NCIt concept]
- Germline Variation [NCIt concept]
- Monoallelic 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
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- RUNX1 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- RUNX1 Gene [NCIt concept]
- RUNX1 wt Allele [NCIt concept]

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