Enhanced Disease Detection of Hairy Cell Leukaemia Through Next-Generation Sequencing Based BRAFV600E and Phased Variant Analysis

EJHaem Pub Date : 2025-04-26 DOI:10.1002/jha2.70032

Simon Wu, Tamia Nguyen, Imogen Caldwell, Sally Hunter, Sushmitha Kannan, Camille Santos, Yan Zhuang Yap, Clarissa Wilson, Mayani Rawicki, Constantine S. Tam, Rachel Koldej, David Ritchie, Piers Blombery

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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

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基于下一代测序的BRAFV600E和阶段性变异分析增强毛细胞白血病的疾病检测

分子技术对毛细胞白血病（HCL）的纵向疾病评估并不常规。通过下一代测序（NGS）和分阶段变异分析结合BRAFV600E和其他基因组靶点是这种情况下疾病检测的新方法。结果BRAFV600E数字液滴PCR对HCL患者外周血和游离DNA （cfDNA）标本进行配对检测，分别在15/48和6/48标本中检测到残留病变。采用分阶段变异分析的NGS检测改善了cfDNA标本的疾病检测，包括那些通过数字液滴PCR检测出BRAFV600E结果不明确的标本。结论通过多个患者特异性基因组靶点提高敏感性，NGS可能提高HCL的疾病检出率。试验注册作者已确认该提交不需要临床试验注册

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EJHaem

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