Figure 6
Figure 6. A model illustrating how NR3C1 haploinsufficiency and lincRNA-3q misregulation contribute to BPDCN pathogenesis. We postulate that attenuated GCR signaling and lincRNA-3q malfunction drive BPDCN disease pathogenesis through epigenetic reprogramming. This is proposed to favor emergence of clinically aggressive disease and predicted to occur progressively by 2 routes. In the first, altered GCR signaling drives a loss-of-EZH2 phenotype that rewires key downstream PRC2 targets (eg, the HOXA locus) and drives deregulation of pDC differentiation pathways and treatment resistance in BPDCN. In the second, BET-dependent desilencing of oncogenic lncRNA genes (lincRNA-3q) may occur as “collateral damage” downstream of altered GCR and EZH2 activity or through other mechanisms. Abnormal activity of the affected nuclear lncRNA (in this case, lincRNA-3q) would engage further rounds of epigenetic reprogramming, leading to misregulation of E2F activity and activation of leukemia stem cell programs.

A model illustrating how NR3C1 haploinsufficiency and lincRNA-3q misregulation contribute to BPDCN pathogenesis. We postulate that attenuated GCR signaling and lincRNA-3q malfunction drive BPDCN disease pathogenesis through epigenetic reprogramming. This is proposed to favor emergence of clinically aggressive disease and predicted to occur progressively by 2 routes. In the first, altered GCR signaling drives a loss-of-EZH2 phenotype that rewires key downstream PRC2 targets (eg, the HOXA locus) and drives deregulation of pDC differentiation pathways and treatment resistance in BPDCN. In the second, BET-dependent desilencing of oncogenic lncRNA genes (lincRNA-3q) may occur as “collateral damage” downstream of altered GCR and EZH2 activity or through other mechanisms. Abnormal activity of the affected nuclear lncRNA (in this case, lincRNA-3q) would engage further rounds of epigenetic reprogramming, leading to misregulation of E2F activity and activation of leukemia stem cell programs.

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