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Enhanced Disease Detection of Hairy Cell Leukaemia Through Next-Generation Sequencing Based BRAF V600E and Phased
Simon Wu1,2, Tamia Nguyen1,3, Imogen Caldwell1,4
1Department of Pathology Peter MacCallum Cancer Centre Melbourne Victoria Australia.
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.
