Totiger Tulasigeri M, Chiraphapphaiboon Wannasiri, Baca Yasmine, Chaudhry Sana, Notti Ryan Q, Montoya Skye, Chojnacka Monika, Gaidosh Gabriel, Afaghani Jumana, Affer Maurizio, Armstrong Christopher, Kavanaugh Paul M, Karaca Efe, Zabroski Jenna, Lewis Michael, Maye Alyssa, Jahn Jacob, Soni Rajesh K, Bilbao Daniel, Walker Phil, Elliott Andrew, Lou Emil, El-Deiry Wafik S, Rodriguez Jose Antonio, Nguyen Hai Dang, Taylor Justin
University of Miami, Miller School of Medicine, Sylvester Comprehensive Cancer Center, Miami, FL, United States.
University of Minnesota, Minneapolis, Minnesota, United States.
Cancer Res. 2025 Jun 18. doi: 10.1158/0008-5472.CAN-24-3112.
XPO1 is a nuclear export receptor that is essential for cell survival. Previous genomic analyses have identified recurrent XPO1 hotspot mutations in cancer. Here, we conducted a large-scale genomic analysis of 217,570 cancer patients to identify and characterize XPO1 variants from real-world patient tumors. XPO1 harbored a R749Q mutation in various solid tumors, with a clear enrichment in endometrial and colorectal cancers, and XPO1R749Q mutations significantly co-occurred with POLE mutations. Analysis of isogenic colon cancer cell lines revealed that XPO1R749Q localized more in the cytoplasm than wildtype XPO1, with enhanced export of a large number of proteins. Structural modeling of XPO1R749Q suggested an increase in RanGTP affinity, which is consistent with enhanced protein export. A compound library screen using over 200 FDA-approved anticancer drugs indicated a general trend towards chemoresistance, specifically to topoisomerase I inhibition, in XPO1R749Q mutant cells. Mechanistically, XPO1R749Q mutant cells exhibited enhanced DNA damage response via RPA phosphorylation in response to topoisomerase I inhibition. Combining XPO1 and topoisomerase I inhibitors reduced DNA damage-induced RPA phosphorylation and mediated synergistic antitumor effects in cells harboring the XPO1R749Q mutation. Finally, the combination of selinexor and irinotecan overcame chemotherapeutic resistance in xenograft mouse models, prolonging survival. These findings suggest that XPO1 alterations in cancer are selected for in POLE mutant tumors and may confer resistance to DNA-damaging chemotherapies, which have implications for patients with tumors bearing XPO1R749Q and for XPO1 inhibitor development in cancer.
XPO1是一种对细胞存活至关重要的核输出受体。先前的基因组分析已在癌症中鉴定出复发性XPO1热点突变。在此,我们对217570例癌症患者进行了大规模基因组分析,以鉴定和表征来自真实世界患者肿瘤的XPO1变体。XPO1在各种实体瘤中存在R749Q突变,在子宫内膜癌和结直肠癌中明显富集,并且XPO1 R749Q突变与POLE突变显著共发生。对同基因结肠癌细胞系的分析表明,XPO1 R749Q比野生型XPO1更多地定位于细胞质中,大量蛋白质的输出增强。XPO1 R749Q的结构建模表明RanGTP亲和力增加,这与增强的蛋白质输出一致。使用200多种FDA批准的抗癌药物进行的化合物库筛选表明,XPO1 R749Q突变细胞普遍存在化疗耐药趋势,特别是对拓扑异构酶I抑制耐药。从机制上讲,XPO1 R749Q突变细胞在拓扑异构酶I抑制后通过RPA磷酸化表现出增强的DNA损伤反应。联合使用XPO1和拓扑异构酶I抑制剂可减少DNA损伤诱导的RPA磷酸化,并在携带XPO1 R749Q突变的细胞中介导协同抗肿瘤作用。最后,塞利尼索和伊立替康的联合用药克服了异种移植小鼠模型中的化疗耐药性,延长了生存期。这些发现表明,癌症中的XPO1改变在POLE突变肿瘤中被选择,并且可能赋予对DNA损伤化疗的耐药性,这对携带XPO1 R749Q的肿瘤患者以及癌症中XPO1抑制剂的开发具有重要意义。
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