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: | , , , , , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
8 July 2014
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| 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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| 520 | |a 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. | ||
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