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Medientyp:
E-Artikel
Titel:
Comparison of methodologies for the detection ofBRAFmutations in bone marrow trephine specimens
Beteiligte:
Cardus, Beatrix;
Colling, Richard;
Hamblin, Angela;
Soilleux, Elizabeth
Erschienen:
BMJ, 2019
Erschienen in:
Journal of Clinical Pathology, 72 (2019) 6, Seite 406-411
Sprache:
Englisch
DOI:
10.1136/jclinpath-2019-205734
ISSN:
0021-9746;
1472-4146
Entstehung:
Anmerkungen:
Beschreibung:
AimsBRAFV600E detection assists in the diagnosis of hairy cell leukaemia (HCL); however, testing practices vary. We evaluated the clinical utility of 5BRAFmutation testing strategies for use on bone marrow trephines (BMT).Methods11 HCL, 5 HCL ‘mimic’, 2 treated HCL and 10 normal BMT specimens were tested for mutantBRAF,comparing Sanger sequencing, pyrosequencing, amplicon-based next generation sequencing (NGS), automated (Idylla) PCR and immunohistochemistry (IHC).ResultsPCR 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-typeBRAFresults in HCL mimics and normal BMT samples.ConclusionsPCR 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.