{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:17:04Z","timestamp":1756383424322,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,6,6]]},"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:p>The identification of genetic variants in melanoma has enabled the development of targeted therapies. Under the National Institute for Health and Care Excellence (NICE) guidance, patients with BRAF V600E variant are eligible for BRAF and MEK inhibitor therapy. For those with advanced or highly symptomatic disease, a rapid response to treatment is often seen. Current practice relies on tissue biopsy to perform immunohistochemistry (IHC) or next generation sequencing (NGS) to identify these variants; however, this can take up to 2 weeks. In patients with widespread disease, rapid initiation of treatment can be lifesaving.<\/jats:p>\n               <jats:p>We describe a case in which hotspot circulating tumour DNA (ctDNA) analysis confirmed BRAF variant 6\u2009days prior to biopsy results. This was utilised to expedite treatment initiation and symptomatically, the patient had initial improvement within a few days.<\/jats:p>\n               <jats:p>This article demonstrates the potential value of ctDNA analysis and the need for further research into this as an alternative to NGS for patients with rapidly progressive disease.<\/jats:p>","DOI":"10.1136\/bcr-2022-254268","type":"journal-article","created":{"date-parts":[[2023,6,23]],"date-time":"2023-06-23T10:12:51Z","timestamp":1687515171000},"page":"e254268","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Use of ctDNA in identifying an actionable BRAF mutation in stage 4 metastatic melanoma"],"prefix":"10.1136","volume":"16","author":[{"given":"Charlotte","family":"Bennett","sequence":"first","affiliation":[{"name":"Oncology, Velindre University NHS Trust, Cardiff, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sian","family":"Morgan","sequence":"additional","affiliation":[{"name":"Oncology, All Wales Medical Genetics Service, Cardiff, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karam","family":"Aboud","sequence":"additional","affiliation":[{"name":"Oncology, Velindre University NHS Trust, Cardiff, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricky Dylan","family":"Frazer","sequence":"additional","affiliation":[{"name":"Oncology, Velindre University NHS Trust, Cardiff, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,6,22]]},"reference":[{"key":"2025082804281215000_16.6.e254268.1","doi-asserted-by":"crossref","unstructured":"Matthews NH , Li WQ , Qureshi AA . Epidemiology of Melanoma. In: Ward WH , Farma JM , eds. Cutaneous melanoma: Etiology and Therapy. Brisbane: Codon Publications, 2017: 3\u201322. doi:10.15586\/codon.cutaneousmelanoma.2017","DOI":"10.15586\/codon.cutaneousmelanoma.2017"},{"key":"2025082804281215000_16.6.e254268.2","unstructured":"Cancer Research UK . Melanoma skin cancer incidence Statistics. 2022. Available: https:\/\/www.cancerresearchuk.org\/health-professional\/cancer-statistics\/statistics-by-cancer-type\/melanoma-skin-cancer\/incidence"},{"key":"2025082804281215000_16.6.e254268.3","doi-asserted-by":"crossref","first-page":"15003","DOI":"10.1038\/nrdp.2015.3","article-title":"Melanoma","volume":"1","author":"Schadendorf","year":"2015","journal-title":"Nat Rev Dis Primers"},{"key":"2025082804281215000_16.6.e254268.4","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.28625"},{"key":"2025082804281215000_16.6.e254268.5","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2017.104"},{"key":"2025082804281215000_16.6.e254268.6","unstructured":"National Institute for health and care excellence . Melanoma: assessment and management NICE guidance 14. NICE; 2022. Available: https:\/\/www.nice.org.uk\/guidance\/ng14"},{"key":"2025082804281215000_16.6.e254268.7","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/j.annonc.2022.05.520","article-title":"ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO precision medicine working group","volume":"33","author":"Pascual","year":"2022","journal-title":"Ann Oncol"},{"key":"2025082804281215000_16.6.e254268.8","doi-asserted-by":"crossref","DOI":"10.3390\/cancers12102914","article-title":"Circulating tumor DNA testing opens new perspectives in Melanoma management","volume":"12","author":"Sacco","year":"2020","journal-title":"Cancers (Basel)"},{"key":"2025082804281215000_16.6.e254268.9","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdy275"},{"key":"2025082804281215000_16.6.e254268.10","doi-asserted-by":"crossref","DOI":"10.3390\/cancers14030777","article-title":"The use of ctDNA for BRAF Mutation testing in routine clinical practice in patients with advanced Melanoma","volume":"14","author":"Sobczuk","year":"2022","journal-title":"Cancers (Basel)"},{"key":"2025082804281215000_16.6.e254268.11","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1159\/000473882","article-title":"Liquid biopsies for monitoring temporal Genomic heterogeneity in breast and colon cancers","volume":"85","author":"Venesio","year":"2018","journal-title":"Pathobiology"},{"key":"2025082804281215000_16.6.e254268.12","doi-asserted-by":"crossref","first-page":"3053","DOI":"10.3390\/cancers14133053","article-title":"Clinical utility of liquid biopsy to detect BRAF and NRAS mutations in stage III\/IV Melanoma patients by using real-time PCR","volume":"14","author":"Giunta","year":"2022","journal-title":"Cancers (Basel)"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-254268","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:28:22Z","timestamp":1756380502000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-254268"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":12,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2023,6,22]]},"published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1136\/bcr-2022-254268"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-254268","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2023,6]]}}}