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XPO1R749Q突变在癌症中与POLE突变共同出现,并且可以作为靶点来克服化疗耐药性。

XPO1R749Q Mutations Co-occur with POLE Mutations in Cancer and can be Targeted to Overcome Chemoresistance.

作者信息

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

机构信息

University of Miami, Miller School of Medicine, Sylvester Comprehensive Cancer Center, Miami, FL, United States.

University of Minnesota, Minneapolis, Minnesota, United States.

出版信息

Cancer Res. 2025 Jun 18. doi: 10.1158/0008-5472.CAN-24-3112.


DOI:10.1158/0008-5472.CAN-24-3112
PMID:40531821
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12354660/
Abstract

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.

摘要

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。

相似文献

[1]
XPO1R749Q Mutations Co-occur with POLE Mutations in Cancer and can be Targeted to Overcome Chemoresistance.

Cancer Res. 2025-6-18

[2]
Autophagy modulates glioblastoma cell sensitivity to Selinexor-mediated XPO1 inhibition.

Neuro Oncol. 2025-6-21

[3]
Effect of Exportin 1/XPO1 Nuclear Export Pathway Inhibition on Coronavirus Replication.

Viruses. 2025-2-18

[4]
Prescription of Controlled Substances: Benefits and Risks

2025-1

[5]
The XPO1 Inhibitor Eltanexor Modulates the Wnt/β-Catenin Signaling Pathway to Reduce Colorectal Cancer Tumorigenesis.

Cancer Res Commun. 2025-7-1

[6]
Selinexor demonstrates anti-tumor efficacy in paired patient-derived xenograft models and hydrogel-embedded histoculture drug sensitivity test of penile cancer.

J Cancer Res Clin Oncol. 2023-8

[7]
The nuclear export protein XPO1 - from biology to targeted therapy.

Nat Rev Clin Oncol. 2021-3

[8]
The nuclear export protein exportin-1 in solid malignant tumours: From biology to clinical trials.

Clin Transl Med. 2024-5

[9]
The GATA-3-dependent transcriptome and tumor microenvironment are regulated by eIF4E and XPO1 in T-cell lymphomas.

Blood. 2025-2-6

[10]
An evaluation of selinexor as a maintenance therapy for patients with p53 wild-type, advanced, or recurrent endometrial carcinoma.

Expert Rev Anticancer Ther. 2025-6-29

本文引用的文献

[1]
The genomic landscape of 2,023 colorectal cancers.

Nature. 2024-9

[2]
Long-term follow-up of efficacy and safety of selinexor maintenance treatment in patients with TP53wt advanced or recurrent endometrial cancer: A subgroup analysis of the ENGOT-EN5/GOG-3055/SIENDO study.

Gynecol Oncol. 2024-6

[3]
Immune checkpoint inhibitors for POLE or POLD1 proofreading-deficient metastatic colorectal cancer.

Ann Oncol. 2024-7

[4]
The P286R mutation of DNA polymerase ε activates cancer-cell-intrinsic immunity and suppresses endometrial tumorigenesis via the cGAS-STING pathway.

Cell Death Dis. 2024-1-18

[5]
CRISPR/Cas9-mediated knock-in of BRCA1/2 mutations restores response to olaparib in pancreatic cancer cell lines.

Sci Rep. 2023-10-31

[6]
XPO1-Mediated mRNA Export of Genome Maintenance Regulators Drives Chemotherapy Resistance in Aggressive Lymphoma.

Cancer Res. 2024-1-2

[7]
Colorectal cancer statistics, 2023.

CA Cancer J Clin. 2023

[8]
Protein biomarkers for response to XPO1 inhibition in haematologic malignancies.

J Cell Mol Med. 2023-2

[9]
POLE/POLD1 mutation and tumor immunotherapy.

J Exp Clin Cancer Res. 2022-7-2

[10]
Colorectal Cancer in Younger Adults.

Hematol Oncol Clin North Am. 2022-6

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