{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T06:27:27Z","timestamp":1782455247867,"version":"3.54.5"},"reference-count":34,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2023,7,27]],"date-time":"2023-07-27T00:00:00Z","timestamp":1690416000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["21K08407"],"award-info":[{"award-number":["21K08407"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["15K09473"],"award-info":[{"award-number":["15K09473"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Medicine"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Distinguishing between central nervous system lymphoma (CNSL) and CNS infectious and\/or demyelinating diseases, although clinically important, is sometimes difficult even using imaging strategies and conventional cerebrospinal fluid (CSF) analyses. To determine whether detection of genetic mutations enables differentiation between these diseases and the early detection of CNSL, we performed mutational analysis using CSF liquid biopsy technique.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we extracted cell\u2010free DNA from the CSF (CSF\u2010cfDNA) of CNSL (<jats:italic>N<\/jats:italic>\u2009=\u200910), CNS infectious disease (<jats:italic>N<\/jats:italic>\u2009=\u200910), and demyelinating disease (<jats:italic>N<\/jats:italic>\u2009=\u200910) patients, and performed quantitative mutational analysis by droplet\u2010digital PCR. Conventional analyses were also performed using peripheral blood and CSF to confirm the characteristics of each disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Blood hemoglobin and albumin levels were significantly lower in CNSL than CNS infectious and demyelinating diseases, CSF cell counts were significantly higher in infectious diseases than CNSL and demyelinating diseases, and CSF\u2010cfDNA concentrations were significantly higher in infectious diseases than CNSL and demyelinating diseases. Mutation analysis using CSF\u2010cfDNA detected <jats:italic>MYD88<\/jats:italic><jats:sup>L265P<\/jats:sup> and <jats:italic>CD79<\/jats:italic><jats:sup>Y196<\/jats:sup> mutations in 60% of CNSLs each, with either mutation detected in 80% of cases. Mutual existence of both mutations was identified in 40% of cases. These mutations were not detected in either infectious or demyelinating diseases, and the sensitivity and specificity of detecting either <jats:italic>MYD88\/CD79B<\/jats:italic> mutations in CNSL were 80% and 100%, respectively. In the four cases biopsied, the median time from collecting CSF with the detected mutations to definitive diagnosis by conventional methods was 22.5\u2009days (range, 18\u201393\u2009days).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These results suggest that mutation analysis using CSF\u2010cfDNA might be useful for differentiating CNSL from CNS infectious\/demyelinating diseases and for early detection of CNSL, even in cases where brain biopsy is difficult to perform.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cam4.6329","type":"journal-article","created":{"date-parts":[[2023,7,28]],"date-time":"2023-07-28T06:27:02Z","timestamp":1690525622000},"page":"16972-16984","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Utility of cerebrospinal fluid liquid biopsy in distinguishing <scp>CNS<\/scp> lymphoma from cerebrospinal infectious\/demyelinating diseases"],"prefix":"10.1002","volume":"12","author":[{"given":"Chisako","family":"Iriyama","sequence":"first","affiliation":[{"name":"Department of Hematology Fujita Health University School of Medicine  Toyoake Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichiro","family":"Murate","sequence":"additional","affiliation":[{"name":"Department of Neurology Fujita Health University School of Medicine  Toyoake Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachiko","family":"Iba","sequence":"additional","affiliation":[{"name":"Department of Hematology Fujita Health University School of Medicine  Toyoake Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akinao","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Hematology Fujita Health University School of Medicine  Toyoake 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