Follicular lymphoma (FL), the most common type of lymphoma, is a cancer of the cells of the immune system. Follicular lymphoma is associated with a specific genome rearrangement where parts of chromosomes 14 and 18 have been exchanged. The progression from FL to a more aggressive disease, diffuse large B-cell lymphoma, may also involve genome rearrangements that disturb genes normally blocking this progression. This project analyzed BAC array high resolution genomes of 24 follicular lymphoma tumours to discover 811 novel genomic rearrangements some of which are recurrent in the 24 patients. 271 distinct rearrangement were identified. An additional 10 follicular lymphomas were sequenced that resulted in identification of a number of gene mutations including one novel mutation.
The project has achieved all of its stated objectives and significantly advanced research in lymphoma genomics, including the characterization of novel genes and rearrangements for this disease. The diverse set of technologies employed in analysis of FL genomes has resulted in an in depth profile of the range of genomic alterations harbored in these tumours, and provided a wealth of new information with which to guide ongoing investigations into the mechanisms of lymphomagenesis and to cancer in general. This work resulted in numerous abstracts, presentations and publications including a high impact publication in Nature Genetics in 2010 (Nat Genet. 42(2):181-5.)