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

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

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

NCIt definition : A precursor lymphoid neoplasm which is composed of B lymphoblasts and carries 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 has a favorable clinical outcome.;

Neoplastic status : Malignant;

ICD-O code : 9814/3;

Details

Origin ID

C80334;

UMLS CUI

C2698314;

Automatic exact mappings (from CISMeF team)
- B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) (morphologic abnormality) [SNOMED CT concept]
Disease excludes abnormal cell
- 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
- Favorable Clinical Outcome [NCIt concept]
- Hepatomegaly [NCIt concept]
- Lymphadenopathy [NCIt concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- B lymphoblastic leukemia lymphoma with t(12;21) (p13;q22); TEL/AML1 (ETV6-RUNX1) (disorder) [SNOMED CT concept]
- B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) (morphologic abnormality) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology Terminology [NCIt concept]
- Mapped ICDO3.1 Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology Terminology [NCIt concept]
- Mapped ICDO3.2 Terminology [NCIt concept]
- NCIt Neoplasm Core Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Abnormal 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]
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
- 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_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]
has_biomarker_gene
- ETV6/RUNX1 Fusion Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- ETV6/RUNX1 Fusion Gene [NCIt concept]
- RUNX1 Gene [NCIt concept]
- RUNX1 wt Allele [NCIt concept]

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