Madorsky Rowdo Florencia P, Martini Rachel, Ackermann Sarah E, Tang Colin P, Tranquille Marvel, Irizarry Adriana, Us Ilkay, Alawa Omar, Moyer Jenna E, Sigouros Michael, Nguyen John, Al Assaad Majd, Cheng Esther, Ginter Paula S, Manohar Jyothi, Stonaker Brian, Boateng Richard, Oppong Joseph K, Adjei Ernest K, Awuah Baffour, Kyei Ishmael, Aitpillah Francis S, Adinku Michael O, Ankomah Kwasi, Osei-Bonsu Ernest B, Gyan Kofi K, Hoda Syed, Newman Lisa, Mosquera Juan Miguel, Sboner Andrea, Elemento Olivier, Dow Lukas E, Davis Melissa B, Martin M Laura
Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, New York.
Department of Surgery, Weill Cornell Medicine, New York, New York.
Cancer Res. 2025 Feb 1;85(3):551-566. doi: 10.1158/0008-5472.CAN-24-0775.
Precision medicine approaches to cancer treatment aim to exploit genomic alterations that are specific to individual patients to tailor therapeutic strategies. Yet, some targetable genes and pathways are essential for tumor cell viability even in the absence of direct genomic alterations. In underrepresented populations, the mutational landscape and determinants of response to existing therapies are poorly characterized because of limited inclusion in clinical trials and studies. One way to reveal tumor essential genes is with genetic screens. Most screens are conducted on cell lines that bear little resemblance to patient tumors, after years of culture under nonphysiologic conditions. To address this problem, we aimed to develop a CRISPR screening pipeline in three-dimensionally grown patient-derived tumor organoid (PDTO) models. A breast cancer PDTO biobank that focused on underrepresented populations, including West African patients, was established and used to conduct a negative-selection kinome-focused CRISPR screen to identify kinases essential for organoid growth and potential targets for combination therapy with EGFR or MEK inhibitors. The screen identified several previously unidentified kinase targets, and the combination of FGFR1 and EGFR inhibitors synergized to block organoid proliferation. Together, these data demonstrate the feasibility of CRISPR-based genetic screens in patient-derived tumor models, including PDTOs from underrepresented patients with cancer, and identify targets for cancer therapy. Significance: Generation of a breast cancer patient-derived tumor organoid biobank focused on underrepresented populations enabled kinome-focused CRISPR screening that identified essential kinases and potential targets for combination therapy with EGFR or MEK inhibitors. See related commentary by Trembath and Spanheimer, p. 407.
癌症治疗的精准医学方法旨在利用个体患者特有的基因组改变来定制治疗策略。然而,即使在没有直接基因组改变的情况下,一些可靶向的基因和信号通路对于肿瘤细胞的生存能力也是必不可少的。在代表性不足的人群中,由于临床试验和研究中的纳入有限,对现有疗法的突变图谱和反应决定因素的了解甚少。揭示肿瘤必需基因的一种方法是进行基因筛选。大多数筛选是在细胞系上进行的,这些细胞系在非生理条件下经过多年培养后与患者肿瘤几乎没有相似之处。为了解决这个问题,我们旨在三维培养的患者来源肿瘤类器官(PDTO)模型中开发一种CRISPR筛选流程。建立了一个专注于包括西非患者在内的代表性不足人群的乳腺癌PDTO生物样本库,并用于进行以激酶组为重点的负向选择CRISPR筛选,以确定类器官生长所必需的激酶以及与EGFR或MEK抑制剂联合治疗的潜在靶点。该筛选鉴定出了几个以前未鉴定的激酶靶点,FGFR1和EGFR抑制剂的联合使用协同阻断了类器官的增殖。总之,这些数据证明了基于CRISPR的基因筛选在患者来源肿瘤模型中的可行性,包括来自代表性不足的癌症患者的PDTO,并确定了癌症治疗的靶点。意义:建立了一个专注于代表性不足人群的乳腺癌患者来源肿瘤类器官生物样本库,使得能够进行以激酶组为重点的CRISPR筛选,从而鉴定出必需激酶以及与EGFR或MEK抑制剂联合治疗的潜在靶点。见Trembath和Spanheimer的相关评论,第407页。