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. 2017 Feb 14;2017:5473197. doi: 10.1155/2017/5473197

Table 1.

Showing the cytogenetic abnormalities that are found in AML and the current known functional consequences of these fusion proteins. Taken and adapted from Kumar et al. (2010) and individual sources as referenced below.

Translocations Oncofusion protein Frequency in AML Consequence of translocation
t(8;21) AML1-ETO 10% Translocation involves the AML1 (RUNX1), a DNA binding TF important for haematopoietic differentiation and the ETO gene (a transcriptional repressor) to give oncofusion protein. The suggested function of the oncofusion is to exert dominant-negative effect on AML1WT to suppress haematopoietic differentiation [59].
t(15;17) PML-RARα 10% The PML-RARα is expressed in haematopoietic myeloid cells and functions as a transcriptional repressor of genes involved in apoptosis, differentiation, and self-renewal [59].
inv(16) CBFβ-MYH11 5–8% CBFβ-MYH11 oncofusion protein is suggested to interact with AML1 to repress transcription in myeloid cells [59].
der(11q23) MLL-fusions 4% Observed in various acute leukaemia and is associated with poor prognosis. The oncofusion protein acts a potent oncogene. It directs the MLL oncoprotein targets complex to DNA sites, while fusion part works as an effector unit [59].
t(9;22) BCR-ABL1 2% Rare Philadelphia-positive AML [60].
t(6;9) DEK-CAN <1% Chimeric fusion protein encodes a mRNA involved in leukaemogenesis [61].
t(1;22) OTT-MAL <1% May regulate chromatin structure, HOX differentiation pathways, or extracellular signaling [62].
t(8;16) MOZ-CBP <1% Upregulation of HOX genes and downregulation of WT1; shares similar pathway as MLL [63].
t(7;11) NUP98-HOXA9 <1% Inhibition of HOXA9 effecting terminal differentiation [64].
inv(3) RPN1-EVI1 <1% The EVI1 fusion induces gene transcription and promotes leukaemogenesis [65].
t(16;21) FUS-ERG <1% Oncofusion protein that acts as a transcriptional repressor of haematopoietic specific genes [66].