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  • Title: ZBTB7A mutations in acute myeloid leukaemia with t(8;21) translocation.
    Author: Hartmann L, Dutta S, Opatz S, Vosberg S, Reiter K, Leubolt G, Metzeler KH, Herold T, Bamopoulos SA, Bräundl K, Zellmeier E, Ksienzyk B, Konstandin NP, Schneider S, Hopfner KP, Graf A, Krebs S, Blum H, Middeke JM, Stölzel F, Thiede C, Wolf S, Bohlander SK, Preiss C, Chen-Wichmann L, Wichmann C, Sauerland MC, Büchner T, Berdel WE, Wörmann BJ, Braess J, Hiddemann W, Spiekermann K, Greif PA.
    Journal: Nat Commun; 2016 Jun 02; 7():11733. PubMed ID: 27252013.
    Abstract:
    The t(8;21) translocation is one of the most frequent cytogenetic abnormalities in acute myeloid leukaemia (AML) and results in the RUNX1/RUNX1T1 rearrangement. Despite the causative role of the RUNX1/RUNX1T1 fusion gene in leukaemia initiation, additional genetic lesions are required for disease development. Here we identify recurring ZBTB7A mutations in 23% (13/56) of AML t(8;21) patients, including missense and truncating mutations resulting in alteration or loss of the C-terminal zinc-finger domain of ZBTB7A. The transcription factor ZBTB7A is important for haematopoietic lineage fate decisions and for regulation of glycolysis. On a functional level, we show that ZBTB7A mutations disrupt the transcriptional repressor potential and the anti-proliferative effect of ZBTB7A. The specific association of ZBTB7A mutations with t(8;21) rearranged AML points towards leukaemogenic cooperativity between mutant ZBTB7A and the RUNX1/RUNX1T1 fusion.
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