Ishiguro Kazuya, Kitajima Hiroshi, Niinuma Takeshi, Maruyama Reo, Tsukahara Tomohide, Hirohashi Yoshihiko, Takaya Akari, Kumegawa Kohei, Yoshido Ayano, Sekiguchi Shohei, Sasaki Hajime, Yorozu Akira, Toyota Mutsumi, Kai Masahiro, Torigoe Toshihiko, Nakase Hiroshi, Suzuki Hiromu
Division of Molecular Biology, Department of Biochemistry, Sapporo Medical University School of Medicine, Sapporo, Japan, S1, W17, Chuo-ku, Sapporo, 060-8556, Japan; Division of Gastroenterology and Hepatology, Department of Internal Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan, S1, W16, Chuo-ku, Sapporo, 060-8556, Japan; Department of Hematology, Tenshi hospital, Sapporo, Japan 1-1, N12, E3, Higashi-ku, Sapporo, 065-8611, Japan.
Division of Molecular Biology, Department of Biochemistry, Sapporo Medical University School of Medicine, Sapporo, Japan, S1, W17, Chuo-ku, Sapporo, 060-8556, Japan.
Cancer Lett. 2025 Jul 21;631:217941. doi: 10.1016/j.canlet.2025.217941.
Immunomodulatory drugs (IMiDs), such as lenalidomide, are a cornerstone of multiple myeloma (MM) treatment; however, their efficacy remains suboptimal. We previously reported that inhibition of DOT1L, a histone H3 lysine 79 methyltransferase, upregulates interferon (IFN)-regulated genes (IRGs) and exerts anti-MM effects. In this study, we aimed to further elucidate the epigenetic dependency of DOT1L in MM and the mechanism by which its inhibition induces innate immune signaling. Analysis of DepMap portal data revealed that MM cells are preferentially dependent on DOT1L, among epigenetic regulators, for survival. DOT1L inhibition activated type I IFN responses and increased expression of human leukocyte antigen (HLA) class II genes in MM cells. Notably, DOT1L inhibition was associated with induction of DNA damage responses. CRISPR/Cas9-mediated knockout of STING1 attenuated IRG induction and diminished the anti-proliferative effects of DOT1L inhibition, suggesting that activation of STING signaling contributes to its anti-MM activity. Furthermore, DOT1L inhibition downregulated IKZF1/3 and IRF4, which was also associated with IRG induction. Finally, DOT1L inhibition enhanced the anti-MM efficacy of lenalidomide by further upregulating IRGs and suppressing IRF4-MYC signaling. These findings suggest that DOT1L is a preferential epigenetic therapeutic target in MM. Its inhibition not only activates innate immune signaling but also enhances the efficacy of lenalidomide.
免疫调节药物(IMiDs),如来那度胺,是多发性骨髓瘤(MM)治疗的基石;然而,它们的疗效仍不尽人意。我们之前报道过,抑制组蛋白H3赖氨酸79甲基转移酶DOT1L可上调干扰素(IFN)调节基因(IRGs)并发挥抗MM作用。在本研究中,我们旨在进一步阐明DOT1L在MM中的表观遗传依赖性及其抑制诱导先天免疫信号传导的机制。对DepMap门户网站数据的分析显示,在表观遗传调节因子中,MM细胞优先依赖DOT1L来维持生存。DOT1L抑制激活了I型IFN反应,并增加了MM细胞中人白细胞抗原(HLA)II类基因的表达。值得注意的是,DOT1L抑制与DNA损伤反应的诱导有关。CRISPR/Cas9介导的STING1基因敲除减弱了IRG诱导,并降低了DOT1L抑制的抗增殖作用,这表明STING信号的激活有助于其抗MM活性。此外,DOT1L抑制下调了IKZF1/3和IRF4,这也与IRG诱导有关。最后,DOT1L抑制通过进一步上调IRGs和抑制IRF4-MYC信号增强了来那度胺的抗MM疗效。这些发现表明,DOT1L是MM中一个优先的表观遗传治疗靶点。其抑制不仅激活先天免疫信号,还增强了来那度胺的疗效。