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Recurrent RHOA mutations in pediatric Burkitt lymphoma treated according to the NHL-BFM protocols

Burkitt lymphoma (BL) is the most frequent B-cell lymphoma in childhood. Genetically, it is characterized by the presence of an IG-MYC translocation which is supposed to be an initiating but not sufficient event in Burkitt lymphomagenesis. In a recent whole-genome sequencing study of four cases, we...

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Main Authors: Rohde, Marius (Author) , Richter, Julia (Author) , Schlesner, Matthias (Author) , Betts, Matthew J. (Author) , Claviez, Alexander (Author) , Bonn, Bettina R. (Author) , Zimmermann, Martin (Author) , Damm-Welk, Christine (Author) , Russell, Robert B. (Author) , Borkhardt, Arndt (Author) , Eils, Roland (Author) , Höll, Jessica (Author) , Szczepanowski, Monika (Author) , Oschlies, Ilske (Author) , Klapper, Wolfram (Author) , Burkhardt, Birgit (Author) , Siebert, Reiner (Author)
Format: Article (Journal)
Language:English
Published: 8 July 2014
In: Genes, chromosomes & cancer
Year: 2014, Volume: 53, Issue: 11, Pages: 911-916
ISSN:1098-2264
DOI:10.1002/gcc.22202
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1002/gcc.22202
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Author Notes:Marius Rohde, Julia Richter, Matthias Schlesner, Matthew J. Betts, Alexander Claviez, Bettina R. Bonn, Martin Zimmermann, Christine Damm-Welk, Robert B. Russell, Arndt Borkhardt, Roland Eils, Jessica I. Hoell, Monika Szczepanowski, Ilske Oschlies, Wolfram Klapper, Birgit Burkhardt, Reiner Siebert, on behalf of the German ICGC MMML-Seq-Project and the NHL-BFM Study Group
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Summary:Burkitt lymphoma (BL) is the most frequent B-cell lymphoma in childhood. Genetically, it is characterized by the presence of an IG-MYC translocation which is supposed to be an initiating but not sufficient event in Burkitt lymphomagenesis. In a recent whole-genome sequencing study of four cases, we showed that the gene encoding the ras homolog family member A (RHOA) is recurrently mutated in pediatric BL. Here, we analyzed RHOA by Sanger sequencing in a cohort of 101 pediatric B-cell lymphoma patients treated according to Non-Hodgkin's Lymphoma Berlin-Frankfurt-Münster (NHL-BFM) study protocols. Among the 78 BLs in this series, an additional five had RHOA mutations resulting in a total incidence of 7/82 (8.5%) with c.14G>A (p.R5Q) being present in three cases. Modeling the mutational effect suggests that most of them inactivate the RHOA protein. Thus, deregulation of RHOA by mutation is a recurrent event in Burkitt lymphomagenesis in children.
Item Description:Gesehen am 08.04.2021
Physical Description:Online Resource
ISSN:1098-2264
DOI:10.1002/gcc.22202

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