EJHaem · 2025
Enhanced Disease Detection of Hairy Cell Leukaemia Through Next-Generation Sequencing Based BRAF V600E and Phased Variant Analysis.
СтатьяНазвание и аннотация: Перевод в очереди
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Wu Simon, Nguyen Tamia, Caldwell Imogen, Hunter Sally, Kannan Sushmitha, Santos Camille, Yap Yan Zhuang, Wilson Clarissa, Rawicki Mayani, Tam Constantine S, Koldej Rachel, Ritchie David, Blombery Piers
Аннотация
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.
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.