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Molecular Characterization of TFE3-Rearranged Renal Cell Carcinoma in Children and Adolescents
Haoyang Liu1, Haolin Liu1, Junru Chen1
1Department of Urology, Institute of Urology, Sichuan Clinical Research Center for Kidney and Urologic Diseases, West China Hospital, Sichuan University, Chengdu, China.
Abstract:
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.
Insights
This study reveals that TFE3-rearranged renal cell carcinoma (TFE3-RCC) in young patients shares molecular and survival characteristics with adult cases. Findings highlight the importance of transcriptional signatures for tailored therapies in pediatric TFE3-RCC.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- TFE3-rearranged renal cell carcinoma (TFE3-RCC) is a rare, aggressive kidney cancer primarily affecting young individuals.
- The molecular landscape of TFE3-RCC in pediatric and adolescent populations is not well understood.
Purpose of the Study:
- To comprehensively characterize the genomic and transcriptional profiles of TFE3-RCC in pediatric/adolescent patients.
- To compare these profiles with those of adult TFE3-RCC tumors.
Main Methods:
- Whole-exome and RNA sequencing of 17 primary pediatric/adolescent TFE3-RCC tumors.
- Analysis of clinicopathological data and patient follow-up from a multicenter database.
Main Results:
- ASPSCR1::TFE3 fusion was the most common subtype in younger patients (median age 21).
- Pediatric/adolescent TFE3-RCC exhibited similar genomic features and survival outcomes to adult tumors.
- ASPSCR1::TFE3 tumors showed increased angiogenesis, proliferation, and stroma gene expression, responding well to combination therapy.
Conclusions:
- Pediatric/adolescent TFE3-RCC shares key molecular and clinical features with adult TFE3-RCC.
- Transcriptional signatures are crucial for understanding TFE3-RCC and developing targeted therapeutic strategies for young patients.
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