Study

Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma

Study ID Alternative Stable ID Type
EGAS00001002606 Other

Study Description

Diffuse large B cell lymphoma (DLBCL) is the most common hematologic malignancy and is characterized by a striking degree of heterogeneity. We enrolled a total of 1001 DLBCL patients and comprehensively defined the landscape of genetic mutations, copy number alterations and expression through whole-exome and transcriptome sequencing. We identified 150 genetic drivers of DLBCL including many novel, clinically relevant genes (e.g. SPEN, SETD1B and KLHL14). Genetic drivers were highly enriched among essential genes identified by CRISPR screening in DLBCL cell lines including those of immediate potential therapeutic relevance such as MTOR, SYK, SF3B1 and XPO1. RHOA emerged as a critical driver gene from our genetic analysis and CRISPR screen; we further delineated its functional role in vitro and in vivo models to define its role as an essential oncogene in DLBCL. Our work thus identifies the functional landscape of genetic drivers and their clinical and therapeutic relevance in DLBCL patients.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001003600
Exome sequencing data for 1001 DLBCL patients and RNA sequencing data for 775 DLBCL patients
Illumina HiSeq 2500 1776

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