Acute Myeloid Leukemia with Germline CEBPA Mutation

Preferred Label : Acute Myeloid Leukemia with Germline CEBPA Mutation;

NCIt synonyms : Familial Acute Myeloid Leukemia with Mutated CEBPA; Acute Myeloid Leukemia with Germline Biallelic CEBPA Mutations;

NCIt definition : Familial acute myeloid leukemia (AML) syndrome associated with biallelic CEBPA mutations. Patients typically present with AML as children or young adults. The familial form of AML with germline CEBPA mutation has morphological and immunophenotypic features similar to those of sporadic AML with CEBPA mutations. Overall, it has a favorable prognosis. (WHO 2017);

Neoplastic status : Malignant;

Details

Origin ID

C151898;

UMLS CUI

C3711382;

Automatic exact mappings (from CISMeF team)
- familial acute myeloid leukemia with mutated cebpa [MeSH concept]
CISMeF manual mappings
- familial acute myeloid leukemia with mutated cebpa [MeSH Supplementary Concept]
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]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- familial acute myeloid leukemia with mutated cebpa [MeSH concept]
- familial acute myeloid leukemia with mutated cebpa [MeSH Supplementary Concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Chronic Clinical Course [NCIt concept]
- Cytogenetic Abnormalities Not Detected [NCIt concept]
- Preexisting Condition [NCIt concept]
- Recurrent Genetic Abnormalities Present [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 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]
- Hereditary Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Recurrent Genetic Abnormalities Present [NCIt concept]
disease_has_molecular_abnormality
- Biallelic Mutation [NCIt concept]
- CEBPA Gene Mutation [NCIt concept]
- Fusion Protein Expression [NCIt concept]
- Germline CEBPA Gene Mutation [NCIt concept]
- Germline 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
- CEBPA Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- CEBPA Gene [NCIt concept]
- CEBPA wt Allele [NCIt concept]
related_to_genetic_biomarker
- CEBPA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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