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Genes Chromosomes Cancer. 2014 Nov;53(11):911-6. doi: 10.1002/gcc.22202. Epub 2014 Jul 8.

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

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1
Department of Pediatric Hematology and Oncology, University Hospital Giessen, Giessen, Germany.

Abstract

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.

PMID:
25044415
DOI:
10.1002/gcc.22202
[Indexed for MEDLINE]
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