The Genomic Landscape of Pediatric Renal Cell Carcinomas

Overview

Journal iScience

Publisher Cell Press

Date 2022 Apr 21

PMID 35445187

Authors

Pengbo Beck

Barbara Selle

Lukas Madenach

David T W Jones

Christian Vokuhl

Apurva Gopisetty

Arash Nabbi

Ines B Brecht

Martin Ebinger

Jenny Wegert

Norbert Graf

Manfred Gessler

Stefan M Pfister

Natalie Jager

Affiliations

Soon will be listed here.

Abstract

Pediatric renal cell carcinomas (RCC) differ from their adult counterparts not only in histologic subtypes but also in clinical characteristics and outcome. However, the underlying biology is still largely unclear. For this reason, we performed whole-exome and transcriptome sequencing analyses on a cohort of 25 pediatric RCC patients with various histologic subtypes, including 10 MiT family translocation (MiT) and 10 papillary RCCs. In this cohort of pediatric RCC, we find only limited genomic overlap with adult RCC, even within the same histologic subtype. Recurrent somatic mutations in genes not previously reported in RCC were detected, such as in , , , . Our papillary pediatric RCCs, which represent the largest cohort to date with comprehensive molecular profiling in this age group, appeared as a distinct genomic subtype differing in terms of gene mutations and gene expression patterns not only from MiT-RCC but also from their adult counterparts.

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