{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T13:18:24Z","timestamp":1772284704237,"version":"3.50.1"},"reference-count":48,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,6,11]],"date-time":"2022-06-11T00:00:00Z","timestamp":1654905600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Grupo Espa\u00f1ol de Investigaci\u00f3n en Neuro-Oncolog\u00eda (GEINO)","award":["BECA GEINO 2016"],"award-info":[{"award-number":["BECA GEINO 2016"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Molecular testing using blood-based liquid biopsy approaches has not been widely investigated in patients with glioma. A prospective single-center study enrolled patients with gliomas ranging from grade II to IV. Peripheral blood (PB) was drawn at different timepoints for circulating tumour DNA (ctDNA) monitoring. Next-generation sequencing (NGS) was used for the study of isocitrate dehydrogenase 1 (IDH1) mutations in the primary tumor. Beads, Emulsion, Amplification and Magnetics (BEAMing) was used for the study of IDH1 mutations in plasma and correlated with the NGS results in the tumor. Between February 2017 and July 2018, ten patients were enrolled, six with IDH1-mutant and four with IDH1 wild-type gliomas. Among the six IDH-mutant gliomas, three had the same IDH1 mutation detected in plasma (50%), and the IDH1-positive ctDNA result was obtained in patients either at diagnosis (no treatment) or during progressive disease. While the false-negative rate reached 86% (18\/21), 15 out of the 18 (83%) plasma-negative results were from PB collected from the six IDH-mutant patients at times at which there was no accompanying evidence of tumor progression, as assessed by MRI. There were no false-positive cases in plasma collected from patients with IDH1 wild-type tumors. BEAMing detected IDH1 mutations in the plasma of patients with gliomas, with a modest clinical sensitivity (true positivity rate) but with 100% clinical specificity, with complete agreement between the mutant loci detected in tumor and plasma. Larger prospective studies should be conducted to expand on these findings, and further explore the clearance of mutations in PB from IDH1-positive patients in response to therapy.<\/jats:p>","DOI":"10.3390\/cancers14122891","type":"journal-article","created":{"date-parts":[[2022,6,11]],"date-time":"2022-06-11T09:33:26Z","timestamp":1654940006000},"page":"2891","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Detection of IDH1 Mutations in Plasma Using BEAMing Technology in Patients with Gliomas"],"prefix":"10.3390","volume":"14","author":[{"given":"Santiago","family":"Cabezas-Camarero","sequence":"first","affiliation":[{"name":"Head & Neck Cancer, Neuro-Oncology and Genetic Counseling Unit, Medical Oncology Department, Instituto de Investigaci\u00f3n Sanitaria San Carlos (IdISSC), Hospital Cl\u00ednico Universitario San Carlos, Paseo del Profesor Mart\u00edn Lagos S\/N, 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2531-0203","authenticated-orcid":false,"given":"Vanesa","family":"Garc\u00eda-Barber\u00e1n","sequence":"additional","affiliation":[{"name":"Molecular Oncology Laboratory, Medical Oncology Department, Instituto de Investigaci\u00f3n Sanitaria San Carlos (IdISSC), Hospital Cl\u00ednico Universitario San Carlos, 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebeca","family":"P\u00e9rez-Alfayate","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hospital Cl\u00ednico Universitario San Carlos, 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0822-1778","authenticated-orcid":false,"given":"Isabel","family":"Casado-Fari\u00f1as","sequence":"additional","affiliation":[{"name":"Pathology Department, Hospital Cl\u00ednico Universitario San Carlos, 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hillary","family":"Sloane","sequence":"additional","affiliation":[{"name":"Medical affairs Division, Sysmex Inostics, Inc., Baltimore, MD 21205, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6534-8206","authenticated-orcid":false,"given":"Frederick S.","family":"Jones","sequence":"additional","affiliation":[{"name":"Medical affairs Division, Sysmex Inostics, Inc., Baltimore, MD 21205, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"P\u00e9rez-Segura","sequence":"additional","affiliation":[{"name":"Head & Neck Cancer, Neuro-Oncology and Genetic Counseling Unit, Medical Oncology Department, Instituto de Investigaci\u00f3n Sanitaria San Carlos (IdISSC), Hospital Cl\u00ednico Universitario San Carlos, Paseo del Profesor Mart\u00edn Lagos S\/N, 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"394","DOI":"10.3322\/caac.21492","article-title":"Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries","volume":"68","author":"Bray","year":"2018","journal-title":"CA Cancer J. 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