Yazarlar : Bohers E, Mareschal S, Bertrand P

Yayın : Leuk Lymphoma

Yayın Yılı : 2014

Pubmed Linki : http://www.docguide.com/activating-somatic-mutations-diffuse-large-b-cell-lymphomas-lessons-next-generation-sequencing-and-k?tsid=5

Konu : Lenfoma

Literatür İçeriği :  Abstract Diffuse large B-cell lymphoma (DLBCL) is the most common form of lymphoma, accounting for 30-40% of newly diagnosed non-Hodgkin lymphomas. Historically, DLBCL has been thought to involve recurrent translocations of the IGH locus and the deregulation of rearranged oncogenes. Whole exome sequencing (WES) of more than two hundred DLBCL has completely redefined the genetic landscape of the disease by identifying recurrent single nucleotide variants and providing new therapeutic opportunities in DLBCL molecular subtypes. Some of these somatic mutations target genes that play a crucial role in B-cell function (BCR signaling, NFκ-B pathway, Toll-like receptor signaling, and the PI3K pathway), immunity, cell cycle/apoptosis, or chromatin modification. In this review, following an overview of the somatic mutations reported in DLBCL, we focus on activating and clustered mutations targeting genes including MYD88, CD79A/B, EZH2 and CARD11 and discuss their clinical and therapeutic relevance in the precision medicine era.

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