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Molecular Characterization of TFE3-Rearranged Renal Cell Carcinoma in Children and Adolescents

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资源类型：
Pubmed体系：
作者：
Liu Haoyang[1] * ; Liu Haolin[1] * ; Chen Junru[1] * ; Yin Xiaoxue[2] * ; Zhu Sha[3] * ; Hu Xu[1] ; Tang Yanfeng[1] ; He Sike[1] ; Zhao Junjie[1] ; Zhang Xingming[1] ; Liang Jiayu[1] ; Zhao Jinge[1] ; Guo Jingjing[1] ; Yang Nanshan[4] ; Nie Ling[2] ; Liu Zhenhua[1] ; Chen Ni[1] ; Shen Pengfei[1] ; Zeng Xiaoxi[5] ; Chen Yuntian[6] ; Zeng Hao[1] ; Sun Guangxi[1] ;
机构： [1]Department of Urology, Institute of Urology, Sichuan Clinical Research Center for Kidney and Urologic Diseases, West China Hospital, Sichuan University, Chengdu, China [2]Department of Pathology, West China Hospital, Sichuan University, Chengdu, China [3]Department of Urology, University of California, San Francisco, California [4]Research Institute, GloriousMed Clinical Laboratory Co., Ltd., Shanghai, China [5]West China Biomedical Big Data Center, West China Hospital, Sichuan University, Chengdu, China [6]Department of Radiology, West China Hospital, Sichuan University, Chengdu, China
出处：
DOI： 10.1016/j.modpat.2025.100748
ISSN：

关键词： clinical outcomes genomics pediatric transcription features TFE3-RCC

摘要：
TFE3-rearranged renal cell carcinoma (TFE3-RCC) is a rare but aggressive subtype of kidney cancer that mainly affects young patients. However, the molecular characteristics of TFE3-RCCs in children and adolescents remain poorly understood. To this end, we performed a comprehensive study to characterize the genomic and transcriptional profiles of pediatric/adolescent TFE3-RCCs and compare them with those of adult tumors. In this study, 17 pediatric/adolescent patients with TFE3-RCC who underwent kidney surgery between 2009 and 2023 were selected from our multicenter TFE3-RCC database (n = 118). Whole-exome and RNA sequencing were performed on untreated primary tumor tissues. Detailed clinicopathological data and patient follow-up information were collected for analysis. ASPSCR1::TFE3 fusion was the most common fusion subtype in pediatric/adolescent patients. Tumors with ASPSCR1::TFE3 fusion developed at a younger age compared with those with other fusion subtypes (median age: 21 years vs 39 years, P < .001). Pediatric/adolescent TFE3-RCCs demonstrated similar genomic features and survival outcomes to those in adults. Similar to adult tumors, pediatric/adolescent TFE3-RCCs with ASPSCR1::TFE3 fusion displayed higher expression of angiogenesis, proliferation, and stroma gene signatures and responded favorably to anti-PD1 plus tyrosine kinase inhibitor combination therapy. This study provides comprehensive insights into the genomic and transcriptional features of pediatric/adolescent TFE3-RCCs, suggesting the importance of transcriptional signatures and the potential therapeutic strategies tailored for this population.Copyright © 2025 United States & Canadian Academy of Pathology. Published by Elsevier Inc. All rights reserved.

基金：
National Natural Science Foundation of China (NSFC 82472673, 82403766, 82373422, 82202901, 82203110, and 82273047), the China Postdoctoral Science Foundation (2024M752231), the Natural Science Foundation of Sichuan Province (2025ZNSFSC1870, 24NSFSC5394 and 2024NSFSC1916), CAMS Innovation Fund for Medical Sciences (2022-I2M-C&T-B-098), and the 1.3.5 project for disciplines of excellence, West China Hospital, Sichuan University (ZYJC21020, ZYGD22004).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2025]版：
大类 | 1 区 医学
小类 | 1 区 病理学
最新[2025]版：
大类 | 1 区 医学
小类 | 1 区 病理学
第一作者：
第一作者机构： [1]Department of Urology, Institute of Urology, Sichuan Clinical Research Center for Kidney and Urologic Diseases, West China Hospital, Sichuan University, Chengdu, China
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Liu Haoyang,Liu Haolin,Chen Junru,et al.Molecular Characterization of TFE3-Rearranged Renal Cell Carcinoma in Children and Adolescents[J].Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc.2025,38(6):100748.doi:10.1016/j.modpat.2025.100748.
APA：
Liu Haoyang,Liu Haolin,Chen Junru,Yin Xiaoxue,Zhu Sha...&Sun Guangxi.(2025).Molecular Characterization of TFE3-Rearranged Renal Cell Carcinoma in Children and Adolescents.Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc,38,(6)
MLA：
Liu Haoyang,et al."Molecular Characterization of TFE3-Rearranged Renal Cell Carcinoma in Children and Adolescents".Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc 38..6(2025):100748

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