Childhood Acute Megakaryoblastic Leukemia with NUP98-KDM5A

Preferred Label : Childhood Acute Megakaryoblastic Leukemia with NUP98-KDM5A;

NCIt synonyms : Childhood Acute Megakaryoblastic Leukemia with NUP98::KDM5A Fusion; Childhood Acute Megakaryoblastic Leukemia with NUP98::KDM5A; Childhood Acute Megakaryoblastic Leukemia with NUP98-KDM5A Fusion;

NCIt related terms : Acute Megakaryoblastic Leukemia with NUP98-KDM5A;

NCIt definition : A non-Down syndrome acute megakaryoblastic leukemia that occurs in childhood. It is associated with t(11;12)(p15;p13) which results in the presence of NUP98-KDM5A chimeric oncogene.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL521168;

Details

Origin ID

C132111;

UMLS CUI

C5854750;

Disease excludes abnormal cell
- Neoplastic Lymphoblast [NCIt concept]
Disease excludes normal cell origin
- Lymphocyte [NCIt concept]
Disease may have findings
- Hypercellular Bone Marrow [NCIt concept]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
Has cytogenetic abnormalities
- Chromosomal Rearrangement [NCIt concept]
- NUP98 Gene Rearrangement [NCIt concept]
- t(11;12)(p15;p13) [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Chronic Clinical Course [NCIt concept]
- Cytogenetic Abnormalities Not Detected [NCIt concept]
- Solid Growth Pattern [NCIt concept]
disease_has_abnormal_cell
- Leukemic Cell [NCIt concept]
- Malignant Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Megakaryoblast [NCIt concept]
- Neoplastic Myeloblast [NCIt concept]
- Neoplastic Myeloid Cell [NCIt concept]
disease_has_finding
- Blasts 10 Percent or More of Bone Marrow Nucleated Cells [NCIt concept]
- Blasts 10 Percent or More of Peripheral Blood White Cells [NCIt concept]
- Childhood Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Recurrent Genetic Abnormalities Present [NCIt concept]
disease_has_molecular_abnormality
- Fusion Protein Expression [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
- NUP98 Gene [NCIt concept]
- NUP98/KDM5A Fusion Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- NUP98/KDM5A Fusion Gene [NCIt concept]

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