ClonoSEQ assay for the detection of lymphoid malignancies

Introduction: Immunoglobulin rearrangement studies by molecular methods are routinely used to detect clonality and to follow up patients with lymphoid malignancies. The design of a next-generation sequencing (NGS) panel using a comprehensive pool of primers, the establishment of a straightforward analytical protocol, a bioinformatic pipeline and the availability of the results of clinical studies have allowed the Clonoseq platform to be licensed as the first assay to measure minimal residual disease (MRD) both in acute lymphoblastic leukemia (ALL) and in multiple myeloma (MM).Areas covered: An extensive literature review (Pubmed search) on the applicability of the high-throughput sequencing (HTS) approach in lymphoid malignancies was conducted. This review discusses recent data in the field and compares this emerging molecular technique with standardized technologies.Expert Opinion: Real-time quantitative (RQ)-PCR and multiparametric flow cytometry (MPFC) are still the gold standard methods of minimal residual disease assessment. New HTS methods as Clonoseq show a high concordance with the above-mentioned techniques and at the same time it provides potential advantages to detect clonal changes. Clonoseq could be helpful to optimize risk-stratification and adjusting treatments in lymphoid malignancies. Moreover, HTS could also be applied to the detection of circulating tumor DNA (ctDNA) on the plasma in lymphomas.