B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1

Term ID

DOID:0080645

Synonyms

• B-ALL with ETV6-RUNX1
• B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1

Definition

A B-lymphoblastic leukemia/lymphoma that is 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. https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343

References

• ICDO:9814/3
• NCI:C80343
• ORDO:585929

Ontology

Human Disease   ( DOID:0080645 )