Histological Transformation and Progression in Follicular Lymphoma: A Clonal Evolution Study. *Kridel, R, *Chan FC, et al. PLoS Medicine, 2016. *Equal Contribution.
- Using a combination of whole-genome sequencing, targeted sequencing, and digital droplet PCR, this study demonstrates divergent patterns of clonal evolution in patients with follicular lymphomas that undergo histological transformation vs. early progression. The authors conclude that transformed tumours are composed mainly of clones that are rare or absent at diagnosis, whereas tumours that progress early typically arise from highly prevalent clones at diagnosis.
Comprehensive characterization of programmed death ligand structural rearrangements in B-cell non-Hodgkin lymphomas. *Chong LC, *Twa DDW, *Mottok A, et al. Blood, 2016. *Equal Contribution.
- This study demonstrates the feasibility of targeted capture sequencing with archival formalin-fixed paraffin-embedded tissue (FFPET) for detecting large-scale genomic rearrangements. The authors identify recurrent patterns of translocations and intra-chromosomal rearrangements in the PDL1 and PDL2 genes in cases selected using FISH break-apart assays.
Genomic Alterations in CIITA Are Frequent in Primary Mediastinal Large B Cell Lymphoma and Are Associated with Diminished MHC Class II Expression. Mottok A, et al. Cell Reports, 2015.
- Utilizing next-generation sequencing data, the authors show that mutations in the CIITA gene are present in over half of PMBCL cases. These mutations lead to reduced expression of MHC class II and an immune privilege phenotype, and analysis of mutational patterns suggests that they likely result from aberrant AID activity.
Cell of origin of transformed follicular lymphoma. Kridel R, et al. Blood, 2015.
- Compares FL samples before and after transformation to demonstrate that IRF4 expression at diagnosis is associated with early transformation, and that FL after transformation (TFL) has distinct patterns including enrichment of MYC translocations. The authors also utilize the Lymph2Cx assay to show that TFLs can be of either GCB or ABC subtype, but are predominantly GCB-like.
Prognostic Significance of Diffuse Large B-Cell Lymphoma Cell of Origin Determined by Digital Gene Expression in Formalin-Fixed Paraffin-Embedded Tissue Biopsies. Scott DW, et al. Journal of Clinical Oncology, 2015.
- Demonstrates reproducibility of the NanoString-based Lymph2Cx assay that identifies cell of origin in DLBCL using FFPET, and shows that it classifies patient groups with significantly different outcomes after treatment with R-CHOP therapy.