The genomic landscape of pediatric renal cell carcinomas

Summary: 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 analy...

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Main 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 Jäger
Format: Article
Language:English
Published: Elsevier 2022-04-01
Series:iScience
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004222004370
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author 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 Jäger
author_facet 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 Jäger
author_sort Pengbo Beck
collection DOAJ
description Summary: 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 CCDC168, PLEKHA1, VWF, and MAP3K9. 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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spelling doaj.art-92c8d7472b5b4a918676c0c8fb0e08052022-12-21T23:14:29ZengElsevieriScience2589-00422022-04-01254104167The genomic landscape of pediatric renal cell carcinomasPengbo Beck0Barbara Selle1Lukas Madenach2David T.W. Jones3Christian Vokuhl4Apurva Gopisetty5Arash Nabbi6Ines B. Brecht7Martin Ebinger8Jenny Wegert9Norbert Graf10Manfred Gessler11Stefan M. Pfister12Natalie Jäger13Hopp Children’s Cancer Center Heidelberg (KiTZ) & Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany; Faculty of Biosciences, Heidelberg University, Heidelberg, GermanyHopp Children’s Cancer Center Heidelberg (KiTZ) & Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, GermanyHopp Children’s Cancer Center Heidelberg (KiTZ) & Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany; Faculty of Biosciences, Heidelberg University, Heidelberg, GermanyHopp Children’s Cancer Center Heidelberg (KiTZ) & Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany; Pediatric Glioma Research Group, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, GermanySection of Pediatric Pathology, Department of Pathology, University Hospital Bonn, Bonn, GermanyHopp Children’s Cancer Center Heidelberg (KiTZ) & Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany; Faculty of Biosciences, Heidelberg University, Heidelberg, GermanyPrincess Margaret Cancer Centre, University Health Network, Toronto, CanadaDepartment of Pediatric Oncology and Hematology, University Children's Hospital Tübingen, Tübingen, GermanyDepartment of Pediatric Oncology and Hematology, University Children's Hospital Tübingen, Tübingen, GermanyTheodor-Boveri-Institute/Biocenter, Developmental Biochemistry, Würzburg University & Comprehensive Cancer Center Mainfranken, Würzburg, GermanyDepartment of Pediatric Oncology and Hematology, Saarland University, Homburg, GermanyTheodor-Boveri-Institute/Biocenter, Developmental Biochemistry, Würzburg University & Comprehensive Cancer Center Mainfranken, Würzburg, GermanyHopp Children’s Cancer Center Heidelberg (KiTZ) & Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany; Department of Pediatric Oncology, Hematology and Immunology, University Hospital Heidelberg, Heidelberg, GermanyHopp Children’s Cancer Center Heidelberg (KiTZ) & Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany; Corresponding authorSummary: 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 CCDC168, PLEKHA1, VWF, and MAP3K9. 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.http://www.sciencedirect.com/science/article/pii/S2589004222004370GenomicsCancer
spellingShingle 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 Jäger
The genomic landscape of pediatric renal cell carcinomas
iScience
Genomics
Cancer
title The genomic landscape of pediatric renal cell carcinomas
title_full The genomic landscape of pediatric renal cell carcinomas
title_fullStr The genomic landscape of pediatric renal cell carcinomas
title_full_unstemmed The genomic landscape of pediatric renal cell carcinomas
title_short The genomic landscape of pediatric renal cell carcinomas
title_sort genomic landscape of pediatric renal cell carcinomas
topic Genomics
Cancer
url http://www.sciencedirect.com/science/article/pii/S2589004222004370
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