B Acute Lymphoblastic Leukemia with Mutated ZEB2 (p.H1038R)

Preferred Label : B Acute Lymphoblastic Leukemia with Mutated ZEB2 (p.H1038R);

NCIt synonyms : B-Acute Lymphoblastic Leukemia with Mutated ZEB2 (p.H1038R)/IGH-CEBPE; B-Acute Lymphoblastic Leukemia with Mutated ZEB2 (p.H1038R)/IGH::CEBPE; B-ALL with Mutated ZEB2 (p.H1038R); B-ALL with Mutated ZEB2 (p.H1038R)/IGH-CEBPE; B Acute Lymphoblastic Leukemia with Mutated ZEB2 (p.H1038R)/IGH-CEBPE; B Acute Lymphoblastic Leukemia with Mutated ZEB2 (p.H1038R)/IGH::CEBPE; B-ALL with Mutated ZEB2 (p.H1038R)/IGH::CEBPE; B-Acute Lymphoblastic Leukemia with Mutated ZEB2 (p.H1038R);

NCIt definition : B-acute lymphoblastic leukemia associated with mutations in the ZEB2 gene that encode a histidine to arginine amino acid substitution at codon 1038. This variation appears to phenocopy the IGH-CEBPE gene fusion. This is a provisional entity.;

Neoplastic status : Malignant;

Concept status : Provisional_Concept;

NCI Metathesaurus CUI : CL1906194;

Details

Origin ID

C199262;

Disease excludes abnormal cell
- Leukemic Plasma Cell [NCIt concept]
- Neoplastic T-Lymphocyte and Neoplastic Natural Killer Cell [NCIt concept]
Disease excludes normal cell origin
- Mature B-Lymphocyte [NCIt concept]
- Myeloid Cell [NCIt concept]
Disease may have findings
- Bone Pain [NCIt concept]
- Extensive Bone Marrow and Blood Involvement [NCIt concept]
- Granulocytopenia [NCIt concept]
- Hepatomegaly [NCIt concept]
- Lymphadenopathy [NCIt concept]
- Splenomegaly [NCIt concept]
- Thrombocytopenia [NCIt concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Chronic Clinical Course [NCIt concept]
- Solid Growth Pattern [NCIt concept]
disease_has_abnormal_cell
- Abnormal Lymphocyte [NCIt concept]
- Leukemic Cell [NCIt concept]
- Leukemic Lymphocyte [NCIt concept]
- Malignant Cell [NCIt concept]
- Neoplastic B-Lymphoblast [NCIt concept]
- Neoplastic B-Lymphocyte [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Lymphoblast [NCIt concept]
- Neoplastic Lymphocyte [NCIt concept]
disease_has_finding
- Malignant Cellular Infiltrate [NCIt concept]
- Recurrent Genetic Abnormalities Present [NCIt concept]
disease_has_molecular_abnormality
- Clonal Immunoglobulin Gene Rearrangement [NCIt concept]
- ZEB2 Gene Mutation [NCIt concept]
- ZEB2 NP_055610.1:p.H1038R [NCIt concept]
disease_has_normal_cell_origin
- B-Lymphocyte [NCIt concept]
- Hematopoietic and Lymphoid Cell [NCIt concept]
- Lymphoblast [NCIt concept]
- Lymphocyte [NCIt concept]
- Precursor B-Lymphoblast [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
- Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
- Lymphatic System [NCIt concept]
disease_mapped_to_gene
- ZEB2 Gene [NCIt concept]
disease_may_have_associated_disease
- Anemia [NCIt concept]
disease_may_have_molecular_abnormality
- Clonal Immunoglobulin Heavy Chain Gene Rearrangement [NCIt concept]
- Clonal Immunoglobulin Kappa Light Chain Gene Rearrangement [NCIt concept]
- Clonal T-Cell Receptor Beta Chain Gene Rearrangement [NCIt concept]
- Clonal T-Cell Receptor Gamma Chain Gene Rearrangement [NCIt concept]
pathogenesis_of_disease_involves_gene
- ZEB2 Gene [NCIt concept]
- ZEB2 wt Allele [NCIt concept]

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