t(8;21)(q21;q22) is the most frequently observed karyotypic abnormality associated with acute myeloid leukemia (AML), especially in FAB M2. As a consequence of the translocation the RUNX1 (previously known as AML) (CBFA2) gene in the 21q22 region is fused to the RUNX1T1 (previously known as ETO) (MTG8) gene in the 8q21 region, resulting in one transcriptionally active gene on the 8q-derivative chromosome. The RUNX1/RUNX1T1 t(8;21)(q21;q22) specific FISH probe is optimized to detect the reciprocal translocation t(8;21) in a dual-color, dual-fusion assay.
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