{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T02:02:43Z","timestamp":1790128963825,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T00:00:00Z","timestamp":1720656000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Leptomeningeal melanoma metastases (LMM) are associated with poor survival. Diagnosis is based on clinical presentation, brain MRI and cerebrospinal fluid (CSF) analysis. Inconclusive findings at initial presentation can delay treatment. In this single\u2010center case series, detection of <jats:italic>BRAF<\/jats:italic><jats:sup>V600<\/jats:sup>\u2010 and <jats:italic>NRAS<\/jats:italic><jats:sup>Q61<\/jats:sup>\u2010mutant cell\u2010free tumor DNA (cfDNA) in CSF was evaluated as a complementary diagnostic biomarker. In 12 patients with clinical suspicion of LMM, a retrospective analysis of MRI, CSF cytology and cfDNA analysis on 1\u2009mL of CSF using the Idylla\u00ae platform was carried out. Nine patients displayed MRI abnormalities suggesting LMM. CSF analysis identified malignant cells in three patients (including one without MRI abnormalities). <jats:italic>BRAF<\/jats:italic><jats:sup>V600<\/jats:sup>\u2010 or <jats:italic>NRAS<\/jats:italic><jats:sup>Q61<\/jats:sup>\u2010mutant cfDNA was detected in CSF of nine patients (eight with and one without MRI abnormalities; all patients with positive CSF cytology). Subsequent follow\u2010up confirmed LMM in all patients with positive and in one patient with a negative CSF cfDNA analysis (sensitivity 81.8%; specificity 100%). Our findings suggest that analyzing <jats:italic>BRAF<\/jats:italic><jats:sup>V600<\/jats:sup>\u2010 and <jats:italic>NRAS<\/jats:italic><jats:sup>Q61<\/jats:sup>\u2010mutant cfDNA in CSF using the Idylla\u00ae platform holds promise as a sensitive and specific complementary diagnostic biomarker for LMM, particularly in case of inconsistency between imaging and CSF cytology. The 110\u2010min analysis can facilitate urgent treatment decisions.<\/jats:p>","DOI":"10.1111\/pcmr.13186","type":"journal-article","created":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T17:25:38Z","timestamp":1720718738000},"page":"822-830","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Detection of cell\u2010free tumor DNA in cerebrospinal fluid as a diagnostic biomarker for leptomeningeal melanoma metastasis: A case series"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2168-0781","authenticated-orcid":false,"given":"Iris","family":"Dirven","sequence":"first","affiliation":[{"name":"Department of Medical Oncology Universitair Ziekenhuis Brussel (UZ Brussel)\/Vrije Universiteit Brussel (VUB)  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manon","family":"Vounckx","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology Universitair Ziekenhuis Brussel (UZ Brussel)\/Vrije Universiteit Brussel (VUB)  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolien I.","family":"Kessels","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology Universitair Ziekenhuis Brussel (UZ Brussel)\/Vrije Universiteit Brussel (VUB)  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justine","family":"Lauwyck","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology Algemeen Ziekenhuis Sint\u2010Lucas  Brugge Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil","family":"Awada","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology Universitair Ziekenhuis Brussel (UZ Brussel)\/Vrije Universiteit Brussel (VUB)  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Marie","family":"Vanbinst","sequence":"additional","affiliation":[{"name":"Department of Radiology Universitair Ziekenhuis Brussel (UZ Brussel)  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"Neyns","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology Universitair Ziekenhuis Brussel (UZ Brussel)\/Vrije Universiteit Brussel (VUB)  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,11]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nly046"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/CMR.0000000000000421"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12538"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms9839"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-21-3017"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdw134"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12861"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-022-02170-x"},{"issue":"6","key":"e_1_2_11_10_1","first-page":"542","article-title":"Cerebrospinal fluid cytology: Diagnostic accuracy and comparison of different techniques","volume":"20","author":"Gondos B.","year":"1976","journal-title":"Acta Cytologica"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1158\/1535-7163.MCT-15-0712"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/noaa298"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11060-016-2081-5"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2016.66.6487"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12967\u2010016\u20100852\u20106"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdy544"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241411443"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050459"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.30911"}],"container-title":["Pigment Cell &amp; 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