Introduction
Acute Myeloid Leukaemia (AML) is one of the most genetically complex and aggressive cancers worldwide. ~1000 Australians are diagnosed with AML annually, with 5-year survival rates of 26%. Improving the outcomes for AML patients is an area of critical importance. Although most of the underlying genetic mutations have been identified, the inherent genetic heterogeneity across patients remains a limiting factor for current targeted therapies.
Our lab has recently discovered that high SNAI1 expression is a frequent event in AML, with more than half of AML patients presenting with upregulated SNAI1 expression1. Furthermore, high levels of SNAI1 are associated with worse overall survival. SNAI1 is a transcriptional regulator responsible for the epithelial-to-mesenchymal transition (EMT) process, a well-known oncogenic driver of tumour metastasis and chemoresistance, particularly in solid cancers.
Only recently has SNAI1 become affiliated with haematological malignancy 2, although the mechanisms by which SNAI1 drives pathogenesis have yet to be unravelled. We aim to utilise our unique models capable of modulating SNAI1 expression to reveal new SNAI1-associated pathogenic weaknesses which may be therapeutically targeted in AML.
Methods
We have developed in vitro and in vivo models capable of modifying and/or tracking SNAI1 expression. Using these models, we are combining the power of bone marrow transplantation assays with CRISPR screening, proteomic analyses and 3D imaging to elucidate the mechanisms by which SNAI1 perturbs normal blood cell development and drives malignant transformation.
Results
We have identified novel roles for SNAI1 in driving aberrant myelopoiesis, impaired erythroid development, megakaryocytic hyperplasia, inflammation and myelofibrosis. We have also identified key upstream regulators of SNAI1 expression in AML, as well as critical interacting partners and downstream transcriptional targets that contribute to SNAI1-driven perturbation of normal haematopoiesis.
Conclusion
We propose that aberrant myeloid development, along with activation of inflammatory signalling and perturbed epigenetic regulation underpins the pathology of SNAI1 driven myeloproliferation, myelofibrosis and ultimately AML. Identifying the key mechanisms employed by SNAI1 in myeloid malignancies will lead to identification of novel therapeutic targets and combination treatments with enhanced efficacy and reduced toxicity.