t(12;21)(p13.2;q22.1)

Preferred Label : t(12;21)(p13.2;q22.1);

NCIt synonyms : t 12 21 p13 q22; t(12;21)(p13;q22);

NCIt definition : A translocation between chromosomes 12 and 21 involved in TEL-AML1 oncogene formation. The translocation produces a chimeric gene encoding a protein consisting of the N-terminal HLH domain of the TEL ETS-like transcription factor fused with a nearly complete AML1 protein. t(12;21) is the most frequent translocation causing ALL, accounting for 20% of ALL cases.;

Details

Origin ID

C13727;

UMLS CUI

C1515717;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- ALL Authorized Value Terminology [NCIt concept]
- ALL Molecular Analysis Table [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 12 [NCIt concept]
- Human Chromosome 21 [NCIt concept]
is_abnormality_of_gene
- ETV6/RUNX1 Fusion Gene [NCIt concept]
is_cytogenetic_abnormality_of_disease
- B Acute Lymphoblastic Leukemia with t(12;21)(p13.2;q22.1); ETV6-RUNX1 [NCIt concept]
molecular_abnormality_involves_gene
- ETS Family Gene [NCIt concept]
- ETV6 Gene [NCIt concept]
- ETV6/RUNX1 Fusion Gene [NCIt concept]
- RUNX1 Gene [NCIt concept]

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