acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)

Term ID

DOID:0081083

Synonyms

• Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM
• Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1

Definition

An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. https://pubmed.ncbi.nlm.nih.gov/31711889/

References

• ICDO:9869/3
• NCI:C82426
• SNOMEDCT_US_2023_03_01:780844005
• UMLS_CUI:C2826172

Ontology

Human Disease   ( DOID:0081083 )