Read the clonotype: Next-generation sequencing-based lymphocyte clonality analysis and perspectives for application in pathology

Patricia J T A Groenen; Michiel van den Brand; Leonie I Kroeze; Avital L Amir; Konnie M Hebeda

doi:10.3389/fonc.2023.1107171

Read the clonotype: Next-generation sequencing-based lymphocyte clonality analysis and perspectives for application in pathology

Front Oncol. 2023 Feb 8:13:1107171. doi: 10.3389/fonc.2023.1107171. eCollection 2023.

Authors

Patricia J T A Groenen^{1

2}, Michiel van den Brand^{1

3}, Leonie I Kroeze^{1

2}, Avital L Amir¹, Konnie M Hebeda¹

Affiliations

¹ Department of Pathology, Radboud University Medical Center, Nijmegen, Netherlands.
² Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.
³ Pathology-DNA, Location Rijnstate Hospital, Arnhem, Netherlands.

Abstract

Clonality assessment using the unique rearrangements of immunoglobulin (IG) and T-cell receptor (TR) genes in lymphocytes is a widely applied supplementary test for the diagnosis of B-cell and T-cell lymphoma. To enable a more sensitive detection and a more precise comparison of clones compared with conventional clonality analysis based on fragment analysis, the EuroClonality NGS Working Group developed and validated a next-generation sequencing (NGS)-based clonality assay for detection of the IG heavy and kappa light chain and TR gene rearrangements for formalin-fixed and paraffin-embedded tissues. We outline the features and advantages of NGS-based clonality detection and discuss potential applications for NGS-based clonality testing in pathology, including site specific lymphoproliferations, immunodeficiency and autoimmune disease and primary and relapsed lymphomas. Also, we briefly discuss the role of T-cell repertoire of reactive lymphocytic infiltrations in solid tumors and B-lymphoma.

Keywords: NGS; T-cell receptor; clonality assessment; gene rearrangement; immunoglobulin E; pathology.