Abstract
INTRODUCTION: Longitudinal disease assessment by molecular techniques is not routine in hairy cell leukaemia (HCL). Combining BRAF (V600E) and other genomic targets through next-generation sequencing (NGS) with phased variant analysis is a novel approach for disease detection in this setting. RESULTS: BRAF (V600E) digital droplet PCR of paired peripheral blood and cell-free DNA (cfDNA) specimens detected residual disease in 15/48 and 6/48 specimens respectively from patients with HCL. NGS testing with phased variant analysis improved disease detection in cfDNA specimens, including those with equivocal BRAF (V600E) results by digital droplet PCR. CONCLUSION: Through multiple patient-specific genomic targets to improve sensitivity, NGS may potentially improve disease detection in HCL. TRIAL REGISTRATION: The authors have confirmed clinical trial registration is not needed for this submission.