t(8;21)(q22;q22)
8q22 and 21q22
RUNX1T1 (ETO) at 8q22 and CBFA (AML1) at 21q22
The t(8;21) results in fusion of the AML1 gene on 21q22 and the ETO gene on 8q22 on a molecular level. It is one of the most common nonrandom chromosomal changes, and it is found in about 5-12% of patients with AML.
Acute myelogenous leukemia (AML) with t(8;21)(q22;q22) demonstrates unique clinico-pathologic disease entity in patients with hematologic malignancies.
Among these cases, complex variants involving chromosomes 8 and 21, as well as a third or fourth chromosome, account for approximately 6-10% of patients with an AML1/ETO chimeric gene, and about 100 variant cases with AML1/ETO fusion transcript have been reported in the literature.
acute myeloid leukemia (5-12%) (one of the most common structural aberration in AML)
- one-third of karyotypically abnormal acute myeloid leukemia M2 cases according to FAB classification (M2-ANLL)
- some acute myeloid leukemia M1 (M1-ANLL)
- some acute myeloid leukemia M4 (M4-ANLL)
See also
t(8;21)(q22;q22)-associated AML
- t(8;21)(q22;q22)-associated AML M2 (M2-ANLL)
Target genes
translocation t(8;21)(q22;q22) involves genes CBFA (AML1) (at 21q22) and RUNX1T1 (ETO) (at 8q22)
See also
heterodimeric components of the core binding factor complex (CBF)
- CBFA1 (AML3 or RUNX2) at 6p21 (MIM.600211)
- CBFA2 (AML1 or RUNX1) at 21q22 (MIM.151385)
- CBFB at 16q22 (involved in translocations and inv(16) associated with leukemia) (MIM.121360)
References
Park TS, Song J, Lee KA, Min YH, Lee SG, Park Y, Kim J, Lee EY, Choi JR. Paracentric inversion-associated t(8;21) variant in de novo acute myelogenous leukemia: characteristic patterns of conventional cytogenetics, FISH, and multicolor banding analysis. Cancer Genet Cytogenet. 2008 May;183(1):72-6. PMID: 18474302