B Acute Lymphoblastic Leukemia with t(12;21)(p13.2;q22.1); ETV6-RUNX1

Preferred Label : B Acute Lymphoblastic Leukemia with t(12;21)(p13.2;q22.1); ETV6-RUNX1;

NCIt synonyms : B-Acute Lymphoblastic Leukemia with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1); B-Cell Acute Lymphoblastic Leukemia with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1); B Acute Lymphoblastic Leukemia with t 12 21 p13 q22 TEL-AML1 ETV6-RUNX1; B Acute Lymphoblastic Leukemia with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1); B Acute Lymphoblastic Leukemia with t(12;21)(p13.2;q22.1); ETV6::RUNX1; B-ALL with t(12;21)(p13.2;q22.1); ETV6-RUNX1; B-ALL with t(12;21)(p13.2;q22.1)/ETV6-RUNX1; B-Acute Lymphoblastic Leukemia with ETV6::RUNX1 Fusion; B-Acute Lymphoblastic Leukemia with ETV6-RUNX1 Fusion; B Acute Lymphoblastic Leukemia with ETV6::RUNX1 Fusion; B Acute Lymphoblastic Leukemia with ETV6-RUNX1 Fusion;

NCIt definition : A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It is commonly seen in children and rarely in adults. It has a favorable clinical outcome.;

Neoplastic status : Malignant;

Details

Origin ID

C80343;

UMLS CUI

C2698305;

DO Cross reference
- B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 [DO Concept]
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]
- Favorable Clinical Outcome [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]
Has cytogenetic abnormalities
- t(12;21)(p13.2;q22.1) [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- NCIt Neoplasm Core Terminology [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]
- ETV6-RUNX1 Fusion Protein Expression [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
- ETV6/RUNX1 Fusion Gene [NCIt concept]
- RUNX1 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
- RUNX1 Gene [NCIt concept]
- RUNX1 wt Allele [NCIt concept]

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