Coding and non-coding drivers of mantle cell lymphoma identified through exome and genome sequencing

Study ID Alternative Stable ID Type
EGAS00001004289 Other

Study Description

Mantle cell lymphoma (MCL) is an uncommon B-cell non-Hodgkin lymphoma (NHL) that is incurable with standard therapies. The genetic drivers of this cancer have not been firmly established and the features that contribute to differences in clinical course remain limited. To extend our understanding of the biological pathways involved in this malignancy, we performed a large-scale genomic analysis of MCL using data from 51 exomes and 34 genomes alongside previously published exome cohorts. To confirm our findings, we re-sequenced the genes identified in the exome cohort in 191 MCL tumors, each having clinical follow-up data. We confirmed the prognostic association of TP53 and NOTCH1 mutations. Our sequencing revealed novel recurrent non-coding mutations surrounding a single exon of the HNRNPH1 gene. In RNA-seq data from 103 of these cases, MCL tumors with these mutations had a distinct imbalance of HNRNPH1 isoforms. This altered splicing of HNRNPH1 was associated with inferior outcomes in MCL and showed a significant increase in protein expression by immunohistochemistry. We describe a ... (Show More)

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
Tumor and normal exomes for 51 MCL patients and tumor and normal genomes for 34 MCL patients.
RNAseq BAM files for Coding and non-coding mantle cell lymphoma driver mutations

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