The response to salvage chemotherapy in relapsed/refractory (R/R) diffuse large B-cell lymphoma (DLBCL) is poor, and data on circulating tumour deoxyribonucleic acid (ctDNA) in this setting are limited. We evaluated ctDNA dynamics in 29 patients with relapsed or refractory DLBCL who received platinum-based salvage chemotherapy at the University Medical Center Groningen. In total, 124 plasma samples were analysed using low-coverage whole-genome sequencing to detect copy number alterations (CNAs) and targeted sequencing with a 115-gene panel for single- and multi-nucleotide variants (SNVs/MNVs). The complete response rate at the end...

Viral infection is a critical early event in Epstein–Barr virus (EBV)-positive B-cell lymphomas. While latent EBV proteins are known to promote cancer development, the role of EBV-encoded microRNAs (miRNAs) is not yet clear. These miRNAs are reported to regulate viral persistence, immune evasion, B-cell survival, and growth. This review compiles evidence on the role of EBV miRNAs in B cells and B-cell lymphomas, including their known target genes, and their effects on cancer-related pathways. By combining profiling studies and results from laboratory models, we highlight how EBV miRNAs...

BACKGROUND: Pathogenic/likely pathogenic variants (P/LPVs) in DNA damage response (DDR) genes are known ovarian cancer (OC) risk factors, but gene-specific risk estimates in Han Chinese remain unclear. OBJECTIVE: To accurately assess the risk associated with DDR genes in the Han Chinese population to facilitate personalized risk management and enhance clinical decision-making. METHODS: We performed next-generation sequencing of 45 DDR genes in 666 OC patients from Henan, China. Associations between P/LPVs and clinical features were assessed using chi-squared tests. Variant frequencies were compared with population controls (gnomAD and ChinaMAP...

With tumor genomic and gene-expression profiling (GEP), this study investigated the immune-molecular signatures of a unique cohort of diffuse large B-cell lymphoma of the bone (bone-DLBCL), including primary bone (PB-DLBCL, n = 52) and polyostotic-DLBCL (n = 20), in comparison to nodal DLBCLs with germinal center B-cell (GCB) phenotype (nodal-DLBCL-GCB, n = 34). PB-DLBCL and polyostotic-DLBCL shared similar genomic profiles and transcriptomic signatures, justifying their collective analysis as bone-DLBCL. Differential incidences of EZH2, HIST1H1E, and MYC aberrations (p < 0.05) confirmed the distinct oncogenic evolution between bone-DLBCL and...

INTRODUCTION: The incidence of patients presenting with multiple cancers (MCs) and pulmonary involvement is increasing. Although next-generation sequencing mutation panels can discern metastases (clonal) from separate primary cancers (nonclonal), it does not warrant a reliable diagnosis for all patients despite significant therapeutic implications. We evaluated the added value of genome-wide copy number aberrations (CNAs) for clonality diagnosis. METHODS: Two cohorts were assembled: 41 clonal and 41 nonclonal pairs from the TRACERx cohort and 21 MC pairs that had sufficient DNA for whole-exome sequencing (WES) from 120 patients diagnosed...