Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York.
Louis V. Gerstner Jr Graduate School of Biomedical Sciences, Memorial Sloan Kettering Cancer Center, New York, New York.
Cancer Discov. 2024 Oct 4;14(10):1860-1878. doi: 10.1158/2159-8290.CD-23-1092.
Clonal hematopoiesis (CH) is a common premalignant state in the blood and confers an increased risk of blood cancers and all-cause mortality. Identification of therapeutic targets in CH has been hindered by the lack of an ex vivo platform amenable for studying primary hematopoietic stem and progenitor cells (HSPCs). Here, we utilize an ex vivo co-culture system of HSPCs with bone marrow endothelial cells to perform CRISPR/Cas9 screens in mutant HSPCs. Our data reveal that loss of the histone demethylase family members Kdm3b and Jmjd1c specifically reduces the fitness of Idh2- and Tet2-mutant HSPCs. Kdm3b loss in mutant cells leads to decreased expression of critical cytokine receptors including Mpl, rendering mutant HSPCs preferentially susceptible to inhibition of downstream JAK2 signaling. Our study nominates an epigenetic regulator and an epigenetically regulated receptor signaling pathway as genotype-specific therapeutic targets and provides a scalable platform to identify genetic dependencies in mutant HSPCs. Significance: Given the broad prevalence, comorbidities, and risk of malignant transformation associated with CH, there is an unmet need to identify therapeutic targets. We develop an ex vivo platform to perform CRISPR/Cas9 screens in primary HSPCs. We identify KDM3B and downstream signaling components as genotype-specific dependencies in CH and myeloid malignancies. See related commentary by Khabusheva and Goodell, p. 1768.
克隆性造血 (CH) 是血液中的一种常见癌前状态,会增加血液癌和全因死亡率的风险。由于缺乏适合研究原发性造血干祖细胞 (HSPCs) 的体外平台,因此 CH 中的治疗靶点的鉴定一直受到阻碍。在这里,我们利用 HSPCs 与骨髓内皮细胞的体外共培养系统,在突变的 HSPCs 中进行 CRISPR/Cas9 筛选。我们的数据表明,组蛋白去甲基酶家族成员 Kdm3b 和 Jmjd1c 的缺失特异性降低了 Idh2 和 Tet2 突变的 HSPCs 的适应性。突变细胞中 Kdm3b 的缺失导致关键细胞因子受体(包括 Mpl)的表达减少,使突变的 HSPCs 更容易受到下游 JAK2 信号的抑制。我们的研究提名了一个表观遗传调节剂和一个受表观遗传调控的受体信号通路作为基因型特异性治疗靶点,并提供了一个可扩展的平台来鉴定突变 HSPCs 中的遗传依赖性。意义:鉴于 CH 与广泛流行、合并症和恶性转化风险相关,因此需要确定治疗靶点。我们开发了一种体外平台,在原发性 HSPCs 中进行 CRISPR/Cas9 筛选。我们确定 KDM3B 和下游信号成分是 CH 和髓系恶性肿瘤中的基因型特异性依赖性。见 Khabusheva 和 Goodell 的相关评论,第 1768 页。