• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

分析肾盂原发性淋巴上皮样癌的基因谱、病理组学特征和预后特征。

Analysis of genetic profiling, pathomics signature, and prognostic features of primary lymphoepithelioma-like carcinoma of the renal pelvis.

机构信息

Department of Urology, Second Affiliated Hospital of Dalian Medical University, China.

Department of Biochemistry, Institute of Glycobiology, Dalian Medical University, China.

出版信息

Mol Oncol. 2022 Oct;16(20):3666-3688. doi: 10.1002/1878-0261.13307. Epub 2022 Sep 2.

DOI:10.1002/1878-0261.13307
PMID:36052737
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9580896/
Abstract

The genetic features of primary lymphoepithelioma-like carcinoma (LELC) of the upper urinary tract have not been systematically explored. In this study, tumor mutation profiling was performed using whole-genome sequencing in two patients with LELC of the renal pelvis. Novel candidate variants relevant to known disease genes were selected using rare-variant burden analysis. Subsequently, a population-based study was performed using the Surveillance, Epidemiology, and End Results (SEER), PubMed, MEDLINE, Embase, and Scopus databases to explore clinical features and prognostic risk factors. Immunohistochemical analysis revealed seven positive cytokeratin-associated markers in tumor cells and five positive lymphocyte-associated markers in and around the tumor area. Sub-sequently, we identified KDM6A as the susceptibility gene and LEPR as the driver gene by Sanger sequencing in case 2 of LELC of the renal pelvis. Three mutation sites of the existing targeted drugs were screened: CA9, a therapeutic target for zonisamide; ARVCF, a therapeutic target for bupropion; and PLOD3, a therapeutic target for vitamin C. In a population-based study, patients with primary LELC of the upper urinary tract had clinical outcomes similar to those of patients with primary upper urinary tract urothelial carcinoma (UUT-UC) before and after propensity score matching at 1 : 5. Focal subtype was an independent prognostic factor for the overall survival of patients with LELC of the upper urinary tract. The carcinogenesis of primary LELC may be due to different genetic variations, including single-nucleotide variants, insertion and deletions, structural variations, and repeat regions, which may provide the basis for clinical diagnosis and treatment. The prognosis of LELC in the upper urinary tract is similar to that of UUT-UC. We suggest that the focal subtype can serve as a prognostic factor for LELC of the upper urinary tract; however, further studies are required to confirm this.

摘要

原发性上尿路淋巴上皮样癌（LELC）的遗传特征尚未得到系统研究。本研究对 2 例肾盂 LELC 患者进行了全基因组测序肿瘤突变分析，采用罕见变异负担分析选择与已知疾病基因相关的候选变异。随后，我们利用 SEER、PubMed、MEDLINE、Embase 和 Scopus 数据库进行了一项基于人群的研究，以探讨临床特征和预后危险因素。免疫组织化学分析显示肿瘤细胞中有 7 种阳性细胞角蛋白相关标志物，肿瘤区域及其周围有 5 种阳性淋巴细胞相关标志物。随后，我们通过对肾盂 LELC 病例 2 的 Sanger 测序，鉴定出 KDM6A 为易感基因，LEPR 为驱动基因。筛选了三种现有靶向药物的突变位点：CA9，佐米曲坦的治疗靶点；ARVCF，安非他酮的治疗靶点；PLOD3，维生素 C 的治疗靶点。在一项基于人群的研究中，在以 1:5 的比例进行倾向评分匹配后，原发性上尿路 LELC 患者与原发性上尿路尿路上皮癌（UUT-UC）患者的临床结局相似。局灶型是上尿路 LELC 患者总生存期的独立预后因素。原发性上尿路 LELC 的发生可能是由于不同的遗传变异，包括单核苷酸变异、插入和缺失、结构变异和重复区域，这可能为临床诊断和治疗提供依据。上尿路 LELC 的预后与 UUT-UC 相似。我们建议局灶型可作为上尿路 LELC 的预后因素；然而，需要进一步的研究来证实这一点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/5c50d041c546/MOL2-16-3666-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/52a85b416adc/MOL2-16-3666-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/22bc1c8e4b00/MOL2-16-3666-g012.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/911e7f50668c/MOL2-16-3666-g013.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/8dcecf89bfe5/MOL2-16-3666-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/50bb35de809d/MOL2-16-3666-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/60ce59ef9187/MOL2-16-3666-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/6fe7bace9fe4/MOL2-16-3666-g010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/01a7f51c5775/MOL2-16-3666-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/065d402d1843/MOL2-16-3666-g011.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/11717fb1a1b6/MOL2-16-3666-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/09e456867f93/MOL2-16-3666-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/5c50d041c546/MOL2-16-3666-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/52a85b416adc/MOL2-16-3666-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/22bc1c8e4b00/MOL2-16-3666-g012.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/911e7f50668c/MOL2-16-3666-g013.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/8dcecf89bfe5/MOL2-16-3666-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/50bb35de809d/MOL2-16-3666-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/60ce59ef9187/MOL2-16-3666-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/6fe7bace9fe4/MOL2-16-3666-g010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/01a7f51c5775/MOL2-16-3666-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/065d402d1843/MOL2-16-3666-g011.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/11717fb1a1b6/MOL2-16-3666-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/09e456867f93/MOL2-16-3666-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb95/9580896/5c50d041c546/MOL2-16-3666-g001.jpg

相似文献

1
Analysis of genetic profiling, pathomics signature, and prognostic features of primary lymphoepithelioma-like carcinoma of the renal pelvis.分析肾盂原发性淋巴上皮样癌的基因谱、病理组学特征和预后特征。
Mol Oncol. 2022 Oct;16(20):3666-3688. doi: 10.1002/1878-0261.13307. Epub 2022 Sep 2.
2
Lymphoepithelioma-like carcinoma of the upper urinary tract.上尿路淋巴上皮瘤样癌
Virchows Arch. 2017 Jun;470(6):703-709. doi: 10.1007/s00428-017-2117-z. Epub 2017 Apr 28.
3
RNA Expression Profiling of Lymphoepithelioma-Like Carcinoma of the Bladder Reveals a Basal-Like Molecular Subtype.膀胱淋巴上皮样癌的 RNA 表达谱分析揭示了基底样分子亚型。
Am J Pathol. 2020 Jan;190(1):134-144. doi: 10.1016/j.ajpath.2019.09.007. Epub 2019 Oct 11.
4
Epidemiology and prognosis of lymphoepithelioma-like carcinoma: a comprehensive analysis of surveillance, epidemiology, and end results (SEER) database.淋巴上皮瘤样癌的流行病学和预后：监测、流行病学和最终结果（SEER）数据库的综合分析。
Int J Clin Oncol. 2021 Jul;26(7):1203-1211. doi: 10.1007/s10147-021-01921-z. Epub 2021 Apr 12.
5
Lymphoepithelioma-like, a variant of urothelial carcinoma of the urinary bladder: a case report and systematic review for optimal treatment modality for disease-free survival.膀胱尿路上皮癌的一种变异型——淋巴上皮瘤样癌：1例报告及关于无病生存最佳治疗方式的系统评价
BMC Urol. 2017 Apr 27;17(1):34. doi: 10.1186/s12894-017-0224-4.
6
Demographics, clinical features, and prognosis of rare lymphoepithelioma-like carcinoma across different anatomic sites.不同解剖部位罕见淋巴上皮样癌样癌的人口统计学、临床特征和预后。
J Egypt Natl Canc Inst. 2022 Feb 1;34(1):5. doi: 10.1186/s43046-021-00103-2.
7
Identification of distinct genomic features reveals frequent somatic AHNAK and PTEN mutations predominantly in primary malignant melanoma presenting in the ureter.鉴定不同的基因组特征表明，原发性恶性黑色素瘤中存在频繁的体细胞 AHNAK 和 PTEN 突变，主要发生在输尿管。
Jpn J Clin Oncol. 2022 Aug 5;52(8):930-943. doi: 10.1093/jjco/hyac061.
8
Lymphoepithelioma-like carcinoma of the ureter: a rare presentation, synchronous with conventional urothelial carcinoma.输尿管淋巴上皮瘤样癌：一种罕见的表现，与传统尿路上皮癌同步发生。
Can J Urol. 2017 Feb;24(1):8673-8675.
9
Lymphoepithelioma-like carcinoma of ureter-a rare case report and review of the literature.输尿管淋巴上皮样癌 1 例报告并文献复习
Kaohsiung J Med Sci. 2012 Sep;28(9):509-13. doi: 10.1016/j.kjms.2012.04.010. Epub 2012 Jul 7.
10
Lymphoepithelioma-like carcinoma of the upper urinary tract: A systematic review of case reports.上尿路淋巴上皮瘤样癌：病例报告的系统评价
World J Clin Cases. 2020 Feb 26;8(4):771-781. doi: 10.12998/wjcc.v8.i4.771.

引用本文的文献

1
Linoleic acid drives pulmonary lymphoepithelioma-like carcinoma progression via PPAR-α/TF axis.亚油酸通过PPAR-α/TF轴驱动肺淋巴上皮瘤样癌进展。
Front Oncol. 2025 Aug 15;15:1640201. doi: 10.3389/fonc.2025.1640201. eCollection 2025.
2
Beyond conventional microscopy: Observing kidney tissues by means of fourier ptychography.超越传统显微镜：通过傅里叶叠层成像术观察肾脏组织。
Front Physiol. 2023 Feb 13;14:1120099. doi: 10.3389/fphys.2023.1120099. eCollection 2023.

本文引用的文献

1
Differences in genomic profile of high-grade urothelial carcinoma according to tumor location.根据肿瘤位置的高级别尿路上皮癌基因组图谱差异。
Urol Oncol. 2022 Mar;40(3):109.e1-109.e9. doi: 10.1016/j.urolonc.2021.08.019. Epub 2021 Oct 16.
2
[A Case of Lymphoepithelioma-Like Carcinoma of the Ureter].[一例输尿管淋巴上皮瘤样癌]
Hinyokika Kiyo. 2021 May;67(5):205-209. doi: 10.14989/ActaUrolJap_67_5_205.
3
Target2DeNovoDrug: a novel programmatic tool for -deep learning based drug design for any target of interest.Target2DeNovoDrug：一个用于基于深度学习的药物设计的新型编程工具，可用于任何感兴趣的目标。
J Biomol Struct Dyn. 2022 Oct;40(16):7511-7516. doi: 10.1080/07391102.2021.1898474. Epub 2021 Mar 11.
4
Eight-year follow-up of locally advanced lymphoepithelioma-like carcinoma at upper urinary tract: A case report.上尿路局部晚期淋巴上皮瘤样癌的八年随访：一例报告
World J Clin Cases. 2020 Oct 6;8(19):4505-4511. doi: 10.12998/wjcc.v8.i19.4505.
5
Lysine Demethylase KDM6A in Differentiation, Development, and Cancer.赖氨酸去甲基化酶 KDM6A 在分化、发育和癌症中的作用。
Mol Cell Biol. 2020 Sep 28;40(20). doi: 10.1128/MCB.00341-20.
6
A compendium of mutational cancer driver genes.癌症驱动基因突变综合分析
Nat Rev Cancer. 2020 Oct;20(10):555-572. doi: 10.1038/s41568-020-0290-x. Epub 2020 Aug 10.
7
LEPR hypomethylation is significantly associated with gastric cancer in males.LEPR 低甲基化与男性胃癌显著相关。
Exp Mol Pathol. 2020 Oct;116:104493. doi: 10.1016/j.yexmp.2020.104493. Epub 2020 Jul 11.
8
Rare primary lymphoepithelioma-like carcinoma of the renal pelvis.罕见的肾盂原发性淋巴上皮瘤样癌。
World J Clin Cases. 2020 May 6;8(9):1752-1755. doi: 10.12998/wjcc.v8.i9.1752.
9
Deficiency Activates Inflammatory Pathways, Promotes M2 Macrophage Polarization, and Causes Bladder Cancer in Cooperation with Dysfunction.缺乏会激活炎症途径，促进 M2 巨噬细胞极化，并与功能障碍协同导致膀胱癌。
Clin Cancer Res. 2020 Apr 15;26(8):2065-2079. doi: 10.1158/1078-0432.CCR-19-2230. Epub 2020 Feb 11.
10
Clinicopathologic analysis of upper urinary tract carcinoma with variant histology.以上泌尿道移行细胞癌变异组织型的临床病理分析。
Virchows Arch. 2020 Jul;477(1):111-120. doi: 10.1007/s00428-020-02745-4. Epub 2020 Jan 16.