High-throughput sequencing of immune repertoire is increasingly used for clinical diagnosis, monitoring of residual disease, and development of cancer immunotherapies. The somatic hypermutations load in the rearranged immunoglobulin heavy-chain variable region gene (IGHV) is a powerful prognostic biomarkers in CLL. CLL arising from unmutated IGHV cells (≥98% identity to closest germline rearrangement) are more aggressive and associate with poor prognosis, while CLL with mutated IGHV (<98% identity) have favorable outcomes and a higher rate of durable remissions after treatment with chemoimmunotherapy combinations. Historically, IGHV mutation status has been performed using Sanger sequencing looking at a single dominant clone. However, next-generation sequencing can reveal the sample's IGHV diversity.
Download our poster from SITC 2018 to learn more about our NGS based IGHV assay, certified by the European Research Initiative on CLL (ERIC).