{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T11:01:56Z","timestamp":1781348516315,"version":"3.54.1"},"reference-count":20,"publisher":"BMJ","issue":"6","funder":[{"DOI":"10.13039\/501100006149","name":"Oxford University Hospitals NHS Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006149","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Oxford NIHR Biomedical Research Centre"},{"DOI":"10.13039\/501100006149","name":"Oxford University Hospitals NHS Foundation Trust","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006149","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000672","name":"Pathological Society of Great Britain and Ireland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000672","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2019,2,8]]},"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>\n                      <jats:italic>BRAF<\/jats:italic>\n                      V600E detection assists in the diagnosis of hairy cell leukaemia (HCL); however, testing practices vary. We evaluated the clinical utility of 5\n                      <jats:italic>BRAF<\/jats:italic>\n                      mutation testing strategies for use on bone marrow trephines (BMT).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      11 HCL, 5 HCL \u2018mimic\u2019, 2 treated HCL and 10 normal BMT specimens were tested for mutant\n                      <jats:italic>BRAF,<\/jats:italic>\n                      comparing Sanger sequencing, pyrosequencing, amplicon-based next generation sequencing (NGS), automated (Idylla) PCR and immunohistochemistry (IHC).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      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\n                      <jats:italic>BRAF<\/jats:italic>\n                      results in HCL mimics and normal BMT samples.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jclinpath-2019-205734","type":"journal-article","created":{"date-parts":[[2019,3,14]],"date-time":"2019-03-14T17:25:14Z","timestamp":1552584314000},"page":"406-411","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Comparison of methodologies for the detection of\n                    <i>BRAF<\/i>\n                    mutations in bone marrow trephine specimens"],"prefix":"10.1136","volume":"72","author":[{"given":"Beatrix","family":"Cardus","sequence":"first","affiliation":[{"name":"Medical School, University of Oxford, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6344-9081","authenticated-orcid":false,"given":"Richard","family":"Colling","sequence":"additional","affiliation":[{"name":"Nuffield Division of Clinical Laboratory Sciences, University of Oxford, Oxford, UK"},{"name":"Department of Cellular Pathology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Hamblin","sequence":"additional","affiliation":[{"name":"Department of Laboratory Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK"},{"name":"NIHR Oxford Biomedical Research Centre, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Soilleux","sequence":"additional","affiliation":[{"name":"Nuffield Division of Clinical Laboratory Sciences, University of Oxford, Oxford, UK"},{"name":"Department of Pathology, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,3,14]]},"reference":[{"key":"2025120521353565000_72.6.406.1","unstructured":"WHO Classification of Tumours . WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues.. In: Swerdlow SH CE , Harris NL , Jaffe ES , et al , eds. Revised 4th. Vol. 2. Lyon: IARC, 2017."},{"key":"2025120521353565000_72.6.406.2","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.beha.2015.09.004","article-title":"Long-term follow-up after purine analogue therapy in hairy cell leukaemia","volume":"28","author":"Else","year":"2015","journal-title":"Best Pract Res Clin Haematol"},{"key":"2025120521353565000_72.6.406.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1310849"},{"key":"2025120521353565000_72.6.406.4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1202124"},{"key":"2025120521353565000_72.6.406.5","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-11-680074"},{"key":"2025120521353565000_72.6.406.6","doi-asserted-by":"crossref","DOI":"10.1182\/blood.V128.22.1214.1214","article-title":"Vemurafenib plus rituximab in hairy cell leukemia: a promising Chemotherapy-Free regimen for relapsed or refractory patients","volume":"128","author":"Tiacci","year":"2016","journal-title":"Blood"},{"key":"2025120521353565000_72.6.406.7","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-07-418434"},{"key":"2025120521353565000_72.6.406.8","doi-asserted-by":"publisher","DOI":"10.18632\/aging.100296"},{"key":"2025120521353565000_72.6.406.9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1014209"},{"key":"2025120521353565000_72.6.406.10","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-08-371179"},{"key":"2025120521353565000_72.6.406.11","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-08-368209"},{"key":"2025120521353565000_72.6.406.12","first-page":"4323","article-title":"Immunohistochemical analysis using a BRAF V600E mutation specific antibody is highly sensitive and specific for the diagnosis of hairy cell leukemia","volume":"7","author":"Wang","year":"2014","journal-title":"Int J Clin Exp Pathol"},{"key":"2025120521353565000_72.6.406.13","doi-asserted-by":"crossref","unstructured":"Ihle MA , Fassunke J , K\u00f6nig K , et al . Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations. BMC Cancer 2014;14.doi:10.1186\/1471-2407-14-13","DOI":"10.1186\/1471-2407-14-13"},{"key":"2025120521353565000_72.6.406.14","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-09-379339"},{"key":"2025120521353565000_72.6.406.15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ctrv.2010.05.003"},{"key":"2025120521353565000_72.6.406.16","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-13-1752"},{"key":"2025120521353565000_72.6.406.17","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2017-204356"},{"key":"2025120521353565000_72.6.406.18","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0163444","article-title":"Multi-center evaluation of the fully automated PCR-based Idylla\u2122 KRAS mutation assay for rapid KRAS mutation status determination on formalin-fixed paraffin-embedded tissue of human colorectal cancer","volume":"11","author":"Solassol","year":"2016","journal-title":"PLoS One"},{"key":"2025120521353565000_72.6.406.19","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2015-203345"},{"key":"2025120521353565000_72.6.406.20","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s00428-018-2486-y","article-title":"Fully automated real-time PCR for EGFR testing in non-small cell lung carcinoma","volume":"474","author":"Colling","year":"2019","journal-title":"Virchows Arch"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jclinpath-2019-205734","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T05:35:49Z","timestamp":1764999349000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jclinpath-2019-205734"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,14]]},"references-count":20,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2019,5,16]]},"published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1136\/jclinpath-2019-205734"],"URL":"https:\/\/doi.org\/10.1136\/jclinpath-2019-205734","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"value":"0021-9746","type":"print"},{"value":"1472-4146","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,14]]}}}