New clues to the molecular pathogenesis of Burkitt lymphoma revealed through next-generation sequencing

Abstract

Purpose of review 

Burkitt lymphoma is an important clinical and model disease arising from B cells. Burkitt lymphoma is characterized by translocation of the c-MYC gene to an immunoglobulin enhancer region, resulting in enhanced cell proliferation and rapid tumor progression. The development of deep sequencing has widened the scope of genetic analysis to reveal the role of additional collaborating mutations in Burkitt lymphoma. In this review, we examine the role of additional genetic events that cooperate with MYC in Burkitt lymphoma pathogenesis.

Recent findings 

Next-generation sequencing of Burkitt lymphoma has identified recurrent silencing mutations in ID3, a novel tumor suppressor gene. In addition, mutations in a number of genes including GNA13, TP53, and SMARCA4 occur in Burkitt lymphoma. Copy number status has implicated recurrent aberrations including gains of 1q and 18q and deletion of 19p13. Additionally, microRNA and gene expression profiling has revealed unique transcriptome signatures in Burkitt lymphoma subgroups.

Summary 

Analysis of genetic alterations in Burkitt lymphoma has yielded a better understanding of the pathogenesis of this disease. These observations could lead to more effective strategies for the diagnosis and treatment of Burkitt lymphoma.