Reduction of phosphoinositide-phospholipase C beta1 methylation predicts the responsiveness to azacitidine in high-risk MDS

MY Follo, C Finelli, S Mongiorgi… - Proceedings of the …, 2009 - National Acad Sciences
MY Follo, C Finelli, S Mongiorgi, C Clissa, C Bosi, N Testoni, F Chiarini, G Ramazzotti
Proceedings of the National Academy of Sciences, 2009National Acad Sciences
Lipid signaling pathways are involved in cell growth, differentiation, and apoptosis, and
could have a role in the progression of myelodysplastic syndromes (MDS) into acute
myeloid leukemia (AML). Indeed, recent studies showed that phosphoinositide-
phospholipase (PI-PL) Cbeta1 mono-allelic deletion correlates with a higher risk of AML
evolution. Also, a single patient treated with azacitidine, a DNA methyltransferase inhibitor
currently used in MDS, displayed a direct correlation between PI-PLCbeta1 gene expression …
Lipid signaling pathways are involved in cell growth, differentiation, and apoptosis, and could have a role in the progression of myelodysplastic syndromes (MDS) into acute myeloid leukemia (AML). Indeed, recent studies showed that phosphoinositide-phospholipase (PI-PL)Cbeta1 mono-allelic deletion correlates with a higher risk of AML evolution. Also, a single patient treated with azacitidine, a DNA methyltransferase inhibitor currently used in MDS, displayed a direct correlation between PI-PLCbeta1 gene expression and drug responsiveness. Consequently, we hypothesized that PI-PLCbeta1 could be a target for demethylating therapy. First, we analyzed the structure of PI-PLCbeta1 gene promoter, then quantified the degree of PI-PLCbeta1 promoter methylation and gene expression in MDS patients at baseline and during azacitidine administration. Indeed, PI-PLCbeta1 mRNA increased in responder patients, along with a reduction of PI-PLCbeta1 promoter methylation. Also, the molecular response correlated to and anticipated the clinical outcome, thus suggesting that PI-PLCbeta1 gene reactivation could predict azacitidine responsiveness. Our results demonstrate not only that PI-PLCbeta1 promoter is hypermethylated in high-risk MDS patients, but also that the amount of PI-PLCbeta1 mRNA could predict the clinical response to azacitidine, therefore indicating a promising new therapeutic approach.
National Acad Sciences