{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T09:57:10Z","timestamp":1753869430267,"version":"3.41.2"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,4,26]],"date-time":"2025-04-26T00:00:00Z","timestamp":1745625600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005189","name":"Leukemia and Lymphoma Society","doi-asserted-by":"publisher","award":["HCL8034\u201022"],"award-info":[{"award-number":["HCL8034\u201022"]}],"id":[{"id":"10.13039\/100005189","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Longitudinal disease assessment by molecular techniques is not routine in hairy cell leukaemia (HCL). Combining <jats:italic>BRAF<\/jats:italic><jats:sup>V600E<\/jats:sup> and other genomic targets through next\u2010generation sequencing (NGS) with phased variant analysis is a novel approach for disease detection in this setting.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>BRAF<\/jats:italic><jats:sup>V600E<\/jats:sup> digital droplet PCR of paired peripheral blood and cell\u2010free 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 <jats:italic>BRAF<\/jats:italic><jats:sup>V600E<\/jats:sup> results by digital droplet PCR.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Through multiple patient\u2010specific genomic targets to improve sensitivity, NGS may potentially improve disease detection in HCL.<\/jats:p><\/jats:sec><jats:sec><jats:title>Trial Registration<\/jats:title><jats:p>The authors have confirmed clinical trial registration is not needed for this submission<\/jats:p><\/jats:sec>","DOI":"10.1002\/jha2.70032","type":"journal-article","created":{"date-parts":[[2025,4,26]],"date-time":"2025-04-26T09:33:48Z","timestamp":1745660028000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Enhanced Disease Detection of Hairy Cell Leukaemia Through Next\u2010Generation Sequencing Based <i>BRAF<\/i><sup>V600E<\/sup> and Phased Variant Analysis"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8339-7343","authenticated-orcid":false,"given":"Simon","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Pathology Peter MacCallum Cancer Centre  Melbourne Victoria Australia"},{"name":"Sir Peter MacCallum Department of Oncology The University of Melbourne  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamia","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Pathology Peter MacCallum Cancer Centre  Melbourne Victoria Australia"},{"name":"Department of Medicine Faculty of Medicine Dentistry and Health Sciences The University of Melbourne  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imogen","family":"Caldwell","sequence":"additional","affiliation":[{"name":"Department of Pathology Peter MacCallum Cancer Centre  Melbourne Victoria Australia"},{"name":"Department of Haematology Auckland City Hospital  Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sally","family":"Hunter","sequence":"additional","affiliation":[{"name":"Department of Pathology Peter MacCallum Cancer Centre  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sushmitha","family":"Kannan","sequence":"additional","affiliation":[{"name":"Department of Pathology Peter MacCallum Cancer Centre  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camille","family":"Santos","sequence":"additional","affiliation":[{"name":"Department of Pathology Peter MacCallum Cancer Centre  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan Zhuang","family":"Yap","sequence":"additional","affiliation":[{"name":"Department of Pathology Peter MacCallum Cancer Centre  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clarissa","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Pathology Peter MacCallum Cancer Centre  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mayani","family":"Rawicki","sequence":"additional","affiliation":[{"name":"Department of Medicine Faculty of Medicine Dentistry and Health Sciences The University of Melbourne  Melbourne Victoria Australia"},{"name":"Department of Clinical Haematology Peter MacCallum Cancer Centre and the Royal Melbourne Hospital  Melbourne Australia"},{"name":"ACRF Translational Research Laboratory The Royal Melbourne Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9759-5017","authenticated-orcid":false,"given":"Constantine S.","family":"Tam","sequence":"additional","affiliation":[{"name":"Department of Haematology The Alfred Hospital  Melbourne Victoria Australia"},{"name":"Faculty of Medicine Nursing and Health Sciences Monash University  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel","family":"Koldej","sequence":"additional","affiliation":[{"name":"Department of Medicine Faculty of Medicine Dentistry and Health Sciences The University of Melbourne  Melbourne Victoria Australia"},{"name":"ACRF Translational Research Laboratory The Royal Melbourne Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Ritchie","sequence":"additional","affiliation":[{"name":"Sir Peter MacCallum Department of Oncology The University of Melbourne  Melbourne Victoria Australia"},{"name":"Department of Medicine Faculty of Medicine Dentistry and Health Sciences The University of Melbourne  Melbourne Victoria Australia"},{"name":"Department of Clinical Haematology Peter MacCallum Cancer Centre and the Royal Melbourne Hospital  Melbourne Australia"},{"name":"ACRF Translational Research Laboratory The Royal Melbourne Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piers","family":"Blombery","sequence":"additional","affiliation":[{"name":"Department of Pathology Peter MacCallum Cancer Centre  Melbourne Victoria Australia"},{"name":"Sir Peter MacCallum Department of Oncology The University of Melbourne  Melbourne Victoria Australia"},{"name":"Department of Clinical Haematology Peter MacCallum Cancer Centre and the Royal Melbourne Hospital  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-01-689422"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1014209"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2006.06066.x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.12282"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2016.00363"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/hon.2932"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41408-022-00760-z"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2018.78.5246"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2021006397"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2021012852"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000521841"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41587-021-00981-w"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.3520"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2009.07668.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1101\/2020.01.27.912790"}],"container-title":["eJHaem"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.70032","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T13:23:11Z","timestamp":1750684991000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jha2.70032"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,26]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1002\/jha2.70032"],"URL":"https:\/\/doi.org\/10.1002\/jha2.70032","archive":["Portico"],"relation":{},"ISSN":["2688-6146","2688-6146"],"issn-type":[{"type":"print","value":"2688-6146"},{"type":"electronic","value":"2688-6146"}],"subject":[],"published":{"date-parts":[[2025,4,26]]},"assertion":[{"value":"2025-03-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70032"}}