Recurrent RHOA mutations in pediatric Burkitt lymphoma treated according to the NHL‐BFM protocols. Issue 11 (8th July 2014)

• Record Type: Journal Article
• Authors: Rohde, Marius; Richter, Julia; Schlesner, Matthias; Betts, Matthew J.; Claviez, Alexander; Bonn, Bettina R.; Zimmermann, Martin; Damm‐Welk, Christine; Russell, Robert B.; Borkhardt, Arndt; Eils, Roland; Hoell, Jessica I.; Szczepanowski, Monika; Oschlies, Ilske; Klapper, Wolfram; Burkhardt, Birgit; Siebert, Reiner; on behalf of the German ICGC MMML‐Seq‐Project and the NHL‐BFM Study Group
• Is Part Of: Genes, chromosomes & cancer. Volume 53:Issue 11(2014:Nov.)
• Page Start: 911
• Page End: 916
• Publication Date: 2014-07-08
• Subjects: Cancer -- Genetic aspects -- Periodicals; 616.994042
• DOI: 10.1002/gcc.22202
• Languages: English
• ISSNs: 1045-2257

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Burkitt lymphoma (BL) is the most frequent B‐cell lymphoma in childhood. Genetically, it is characterized by the presence of an <italic>IG‐MYC</italic> 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 (<italic>RHOA</italic>) is recurrently mutated in pediatric BL. Here, we analyzed <italic>RHOA</italic> 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 <italic>RHOA</italic> mutations resulting in a total incidence of 7/82 (8.5%) with c.14G&gt;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. © 2014 Wiley Periodicals, Inc.</p> </abstract>