ClonoSEQ assay for the detection of lymphoid malignancies

ABSTRACT

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.

KEYWORDS:

• Acute leukemia
• molecular genetics
• next generation sequencing
• measurable residual disease
• multiple myeloma
• lymphoid malignancies

Declaration of interest

Josep Nomdedeu received Advisory board and fees from Novartis but unrelated to the content of the manuscript. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewers Disclosure

Peer reviewers on this manuscript have no relevant financial relationships or otherwise to disclose.

Additional information

Funding

Authors declare funding from Departament d’Innovació, Universitats i Empresa, Generalitat de Catalunya grants: 2014-SGR-383;PERIS SLT002/16/0043 and a grant from Instituto de Salud Carlos III: 16/0940.