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AIMS: BRAF V600E detection assists in the diagnosis of hairy cell leukaemia (HCL); however, testing practices vary. We evaluated the clinical utility of 5 BRAF mutation testing strategies for use on bone marrow trephines (BMT). METHODS: 11 HCL, 5 HCL 'mimic', 2 treated HCL and 10 normal BMT specimens were tested for mutant BRAF, comparing Sanger sequencing, pyrosequencing, amplicon-based next generation sequencing (NGS), automated (Idylla) PCR and immunohistochemistry (IHC). RESULTS: PCR and IHC were cheaper and identified V600E in 100 % of HCL cases. Pyrosequencing detected the mutation in 91%, NGS in 55% of cases and Sanger sequencing in 27%. All assays gave wild-type BRAF results in HCL mimics and normal BMT samples. CONCLUSIONS: PCR and IHC were most sensitive and cost-effective, but these have limited scope for multiplexing and are likely to be replaced by NGS gene panels or whole genome sequencing in the medium to long term.

Original publication




Journal article


J Clin Pathol

Publication Date





406 - 411


BRAF, Hairy cell leukaemia, bone marrow, immunohistochemistry, molecular pathology, Automation, Laboratory, Biomarkers, Tumor, Biopsy, Bone Marrow, Bone Marrow Examination, Cost-Benefit Analysis, DNA Mutational Analysis, Health Care Costs, High-Throughput Nucleotide Sequencing, Humans, Immunohistochemistry, Leukemia, Hairy Cell, Mutation, Predictive Value of Tests, Proto-Oncogene Proteins B-raf, Real-Time Polymerase Chain Reaction, Reproducibility of Results