Dutta Rudra P, Thibaud Santiago, Leshchenko Violetta, Ram Meghana, Melnekoff David T, Bhalla Sherry, Restrepo Paula, Gupta Vikas A, Barwick Benjamin G, Newman Scott, McCafferty Jonathan, Hantash Feras, Nooka Ajay K, Cho Hearn J, Richard Shambavi, Rodriguez Cesar, Rossi Adriana, Sanchez Larysa, Chari Ajai, Boise Lawrence H, Jagannath Sundar, Richter Joshua, Parekh Samir, Laganà Alessandro
The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY.
Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, New York, NY.
Blood Neoplasia. 2024 Oct 14;1(4):100049. doi: 10.1016/j.bneo.2024.100049. eCollection 2024 Dec.
Venetoclax, a selective B-cell lymphoma 2 (BCL2) inhibitor, has emerged as a promising therapeutic agent for multiple myeloma (MM), particularly in patients harboring the t(11;14) translocation. In this study, we set out to identify markers of sensitivity and resistance to venetoclax in a real-world patient population, aiming to facilitate the development of personalized therapeutic strategies. Through the analysis of RNA sequencing (RNA-seq) data from relapsed/refractory patients treated with venetoclax, either as a single agent or in combination with other drugs, we unveiled a novel 6-gene signature that significantly stratified patients into risk groups for relapse and further validated its clinical relevance in 2 independent clinical and ex vivo data sets. Our analysis also highlighted the negative impact of chromosome 1q gain, which harbors the myeloid cell leukemia-1 (MCL1) gene, on progression-free survival, even in t(11;14)-positive patients. Encouraged by the well-documented role of MCL1 in resistance to venetoclax in various malignancies and the prognostic importance of the BCL2/MCL1 ratio in our cohort, we explored Cyclin-Dependent Kinase 7 (CDK7) inhibition as a potential strategy to overcome venetoclax resistance. In vitro experiments demonstrated that CRISPR-Cas9-mediated CDK7 depletion led to decreased MCL1 levels, enhancing the sensitivity of MM cells to venetoclax. Moreover, the combination of the CDK7 inhibitor THZ1 with venetoclax markedly induced cell death in venetoclax-resistant MM cells harboring 1q gain, thus offering a rational therapeutic approach, particularly for patients with this aberration. Overall, these findings provide important insights for optimizing venetoclax-based therapeutic strategies in MM.
维奈托克是一种选择性B细胞淋巴瘤2(BCL2)抑制剂,已成为治疗多发性骨髓瘤(MM)的一种有前景的治疗药物,尤其是对于携带t(11;14)易位的患者。在本研究中,我们着手在真实世界的患者群体中确定对维奈托克敏感和耐药的标志物,旨在促进个性化治疗策略的发展。通过分析接受维奈托克单药治疗或与其他药物联合治疗的复发/难治性患者的RNA测序(RNA-seq)数据,我们发现了一种新的6基因特征,该特征可将患者显著分层为复发风险组,并在2个独立的临床和体外数据集中进一步验证了其临床相关性。我们的分析还强调了1号染色体q臂增加(该区域包含髓系细胞白血病-1(MCL1)基因)对无进展生存期的负面影响,即使在t(11;14)阳性患者中也是如此。鉴于MCL1在各种恶性肿瘤中对维奈托克耐药的作用已得到充分证明,且BCL2/MCL1比值在我们的队列中具有预后重要性,我们探索了抑制细胞周期蛋白依赖性激酶7(CDK7)作为克服维奈托克耐药的潜在策略。体外实验表明,CRISPR-Cas9介导的CDK7缺失导致MCL1水平降低,增强了MM细胞对维奈托克的敏感性。此外,CDK7抑制剂THZ1与维奈托克联合使用可显著诱导携带1号染色体q臂增加的维奈托克耐药MM细胞死亡,从而提供了一种合理的治疗方法,特别是对于有这种异常的患者。总体而言,这些发现为优化MM中基于维奈托克的治疗策略提供了重要见解。