A Comprehensive Genetic Study of Classical Hodgkin Lymphoma Using Circulating Tumour DNA

This study on classical Hodgkin lymphoma (cHL) used advanced methods to analyse circulating tumour DNA (ctDNA) in 297 cases, offering insights into its genetic landscape and linking it to disease pathophysiology and clinical progression. Key findings include the identification of whole genome duplication as a predictor of poor chemotherapy response. Additionally, a highly recurrent somatic expression quantitative trait locus of the BCL6 gene was discovered, implicating regulatory mutations in cHL pathophysiology and highlighting BCL6 as both a vulnerability and therapeutic target. Consensus clustering identified two cHL subtypes distinguished by the underlying mechanisms of genetic instability, rather than by specific genetic mutations or EBV infection. The study also linked the number and clonality of neoantigens with tumour microenvironment and response to checkpoint blockade. Finally, our results suggested ctDNA analysis as a tool to distinguish ambiguous PET/CT-positive lesions persisting after treatment, aiming to reduce unnecessary medical interventions.

Type: Cancer Genomics
Archiver: European Genome-Phenome Archive (EGA)

3 Datasets

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000001271	The dataset contains raw data of 27 bulk RNA-sequencing data from 9 cHL cell lines. Paired-end fastq with polyA capture are available for each cell line.	NextSeq 2000	9
EGAD50000001272	The dataset contains 36 ChIP-seq data for H3K27Ac and their corresponging inputs for 9 cHL cell lines. Data are raw paired-end fasq files for each histone and input, and for each cell line.	NextSeq 2000	9
EGAD50000001273	The dataset contains 21 ATAC-seq samples from 9 cHL cell lines. Files within the dataset are raw fastq files for each cell line.	NextSeq 2000	7