Myelodysplastic Syndrome with Biallelic TP53 Inactivation

Preferred Label : Myelodysplastic Syndrome with Biallelic TP53 Inactivation;

NCIt synonyms : Myelodysplastic Neoplasm with Biallelic Multi-Hit TP53 Alteration; Myelodysplastic Neoplasm with Biallelic TP53 Alteration; MDS-biTP53; Myelodysplastic Syndrome with Biallelic TP53 Alteration; Myelodysplastic Neoplasm with Biallelic TP53 Inactivation;

NCIt definition : Myelodysplastic syndrome characterized by the presence of biallelic TP53 inactivating alterations. They include biallelic TP53 gene mutations or one TP53 gene mutation and concurrent copy loss of TP53. There are less than 20% blasts in bone marrow and peripheral blood. It is associated with a poor prognosis.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1907395;

Details

Origin ID

C200376;

Currated CISMeF NLP mapping
- Myelodysplastic neoplasm with biallelic TP53 inactivation (disorder) [SNOMED CT concept]
Disease may have findings
- Hypercellular Bone Marrow [NCIt concept]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
See also inter- (CISMeF)
- Myelodysplastic neoplasm with biallelic TP53 inactivation (morphologic abnormality) [SNOMED CT 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
- Blasts Under 20 Percent of Bone Marrow Nucleated Cells [NCIt concept]
- Blasts Under 20 Percent of Peripheral Blood White Cells [NCIt concept]
- Bone Marrow Dysplasia Present [NCIt concept]
- Ineffective Hematopoiesis [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Myeloblasts Under 20 Percent of Bone Marrow Nucleated Cells [NCIt concept]
- Myeloblasts Under 20 Percent of Peripheral Blood White Cells [NCIt concept]
- Recurrent Genetic Abnormalities Present [NCIt concept]
disease_has_molecular_abnormality
- Biallelic TP53 Gene Inactivation [NCIt concept]
- TP53 Gene Inactivation [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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients