儿童和青少年tfe3重排肾细胞癌的分子特征。

IF 7.1 1区医学 Q1 PATHOLOGY

Modern Pathology Pub Date : 2025-03-06 DOI:10.1016/j.modpat.2025.100748

Haoyang Liu , Haolin Liu , Junru Chen , Xiaoxue Yin , Sha Zhu , Xu Hu , Yanfeng Tang , Sike He , Junjie Zhao , Xingming Zhang , Jiayu Liang , Jinge Zhao , Jingjing Guo , Nanshan Yang , Ling Nie , Zhenhua Liu , Ni Chen , Pengfei Shen , Xiaoxi Zeng , Yuntian Chen , Guangxi Sun

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引用次数: 0

摘要

tfe3 -重排肾细胞癌（TFE3-RCC）是一种罕见但侵袭性的肾癌亚型，主要影响年轻患者。然而，儿童和青少年tfe3 - rcc的分子特征仍然知之甚少。为此，我们进行了一项全面的研究，以表征儿童/青少年tfe3 - rcc的基因组和转录谱，并将其与成人肿瘤进行比较。在本研究中，从我们的多中心TFE3-RCC数据库（n = 118）中选择了2009年至2023年间接受肾脏手术的17例儿童/青少年TFE3-RCC患者。对未经治疗的原发肿瘤组织进行全外显子组和RNA测序。收集详细的临床病理资料和患者随访资料进行分析。ASPSCR1::TFE3融合是儿童/青少年患者中最常见的融合亚型。与其他融合亚型相比，ASPSCR1::TFE3融合的肿瘤发病年龄更小(中位年龄：21岁vs. 39岁，P

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

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.

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来源期刊

Modern Pathology 医学-病理学

CiteScore

14.30

自引率

2.70%

发文量

174

审稿时长

18 days

期刊介绍： Modern Pathology, an international journal under the ownership of The United States & Canadian Academy of Pathology (USCAP), serves as an authoritative platform for publishing top-tier clinical and translational research studies in pathology. Original manuscripts are the primary focus of Modern Pathology, complemented by impactful editorials, reviews, and practice guidelines covering all facets of precision diagnostics in human pathology. The journal's scope includes advancements in molecular diagnostics and genomic classifications of diseases, breakthroughs in immune-oncology, computational science, applied bioinformatics, and digital pathology.