Enhanced Disease Detection of Hairy Cell Leukaemia Through Next-Generation Sequencing Based BRAF V600E and Phased Variant Analysis
- Author(s)
- Wu, S; Nguyen, T; Caldwell, I; Hunter, S; Kannan, S; Santos, C; Yap, YZ; Wilson, C; Rawicki, M; Tam, CS; Koldej, R; Ritchie, D; Blombery, P;
- Details
- Publication Year 2025-06,Volume 6,Issue #3,Page e70032
- Journal Title
- eJHaem
- Publication Type
- Research article
- 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.
- Publisher
- Wiley
- Keywords
- Nhl; genes; hairy cell leukaemia; immunoglobulin genes; lymphomas; molecular
- Department(s)
- Pathology; Haematology
- Publisher's Version
- https://doi.org/10.1002/jha2.70032
- Open Access at Publisher's Site
https://doi.org/10.1002/jha2.70032- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2025-07-17 07:59:03
Last Modified: 2025-07-17 07:59:16