The study investigated the differences in chimeric read artifacts associated with formalin-fixed paraffin-embedded (FFPE) samples in molecular characterization studies by using a cohort of matched fresh-frozen (FF) and FFPE tissue samples.
Scientists from BLGSP demonstrated that tumor EBV status defines a specific BL phenotype irrespective of geographic origin with particular molecular properties and distinct pathogenic mechanisms. EBV-positive BL genomes feature fewer driver mutations despite their greater mutational load.
By utilizing whole-genome sequencing, DNA copy number analysis and RNA-seq, researchers discovered recurrent somatic point mutations and genes that were targeted by focal somatic deletions in diffuse large B-cell lymphoma (DLBCL).
Researchers explored the effects of FOXO1 mutations in DLBCL patient samples and DLBCL-derived cell lines and suggested FOXO1 mutation as a novel prognostic factor in DLBCL pathogenesis.
The study identified a recurrent somatic novel gene fusion between TBL1XR1 and TP63 by analyzing transcriptome data from 96 DLBCL cases.
Morin et al. uncovered a novel role for chromatin modification in driving the progression of two non-Hodgkin lymphomas (NHLs), follicular lymphoma and diffuse large B-cell lymphoma.
Through whole exome sequencing, researchers found that pediatric medulloblastoma, the most common malignant brain tumor found in children, contained a fraction of the mutations found in adult cancers and suggested dysregulation of developmental pathways as a mechanism underlying medulloblastomas.
The study described recurrent somatic mutations in EZH2, a polycomb group oncogene. The mutation, found in the SET domain of this gene encoding a histone methyltransferase, is found only in a subset of lymphoma samples.