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Letter

Nature Medicine 12, 945–949 (1 August 2006) | doi:10.1038/nm1443

A previously unidentified alternatively spliced isoform of t(8;21) transcript promotes leukemogenesis

Ming Yan , Eiki Kanbe , Luke F Peterson , Anita Boyapati , Yuqin Miao , Yang Wang , I-Ming Chen , Zixing Chen , Janet D Rowley , Cheryl L Willman & Dong-Er Zhang

The t(8;21)(q22;q22) translocation is one of the most common genetic abnormalities in acute myeloid leukemia (AML), identified in 15% of all cases of AML, including 40–50% of FAB M2 subtype and rare cases of M0, M1 and M4 subtypes. The most commonly known AML1-ETO fusion protein (full-length AML1-ETO) from this translocation has 752 amino acids and contains the N-terminal portion of RUNX1 (also known as AML1, CBFα2 or PEBP2αB), including its DNA binding domain, and almost the entire RUNX1T1 (also known as MTG8 or ETO) protein.