{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T06:53:27Z","timestamp":1777013607684,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T00:00:00Z","timestamp":1773619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T00:00:00Z","timestamp":1773619200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Copy number variations (CNVs) play a central role in the classification, grading and prognostication of central nervous system (CNS) tumours. While genome\u2010wide methylation arrays are widely used for CNV profiling, next\u2010generation sequencing (NGS) panels are increasingly implemented in routine diagnostics. We hypothesised that off\u2010target sequencing reads from small hybrid\u2010capture panels not specifically designed for copy\u2010number detection can yield clinically actionable genome\u2010wide CNV profiles. We analysed 60 CNS tumour samples, including glioblastomas, oligodendrogliomas, ependymal tumours, medulloblastomas and choroid plexus tumours using a small\u2010scale custom hybrid\u2010capture panel (&lt;\u20090,2\u2009Mb) and compared CNV profiles inferred from sequencing reads to those obtained with methylation arrays. Additionally, 58 meningiomas and 6 pilocytic astrocytomas with\n                    <jats:italic>BRAF<\/jats:italic>\n                    fusions were profiled with the same NGS panel. Across 527 chromosomal arm\u2010level alterations, concordance between NGS\u2010 and methylation\u2010derived profiles was 95%. All 19 focal amplifications (e.g.,\n                    <jats:italic>EGFR<\/jats:italic>\n                    ,\n                    <jats:italic>MDM4<\/jats:italic>\n                    and\n                    <jats:italic>MYCN<\/jats:italic>\n                    ) and the majority of homozygous\n                    <jats:italic>CDKN2A\/B<\/jats:italic>\n                    deletions were correctly detected. In meningiomas, genome\u2010wide CNV profiling from off\u2010target reads identified WHO\u2010relevant alterations, including\n                    <jats:italic>CDKN2A\/B<\/jats:italic>\n                    deletions and 1p\/22q co\u2010deletions, supporting molecular upgrading in 9\/58 (16%) of histologically lower grade tumours. Focal copy\u2010number variations on Chr7q suggestive of\n                    <jats:italic>BRAF<\/jats:italic>\n                    fusions were observed in 5\/6 fusion\u2010positive pilocytic astrocytomas. These findings demonstrate that off\u2010target reads from minimal targeted NGS panels can generate genome\u2010wide CNV profiles, comparable to methylation array data, without the need for additional assays or specialised probe designs.\n                  <\/jats:p>","DOI":"10.1111\/nan.70070","type":"journal-article","created":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T09:09:41Z","timestamp":1773652181000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Detection of Copy\u2010Number Variations in CNS Tumours From Off\u2010Target Reads of Hybrid\u2010Capture Sequencing"],"prefix":"10.1111","volume":"52","author":[{"given":"Jan","family":"Schnorrenberg","sequence":"first","affiliation":[{"name":"Institute of Neuropathology University Hospital M\u00fcnster  M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yannis\u00a0Luca","family":"Adrian","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University Hospital M\u00fcnster  M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Schlath\u00f6lter","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University Hospital M\u00fcnster  M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Ruckert","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Centre of Medical Genetics (CMG) University and University Hospital M\u00fcnster  M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Centre of Medical Genetics (CMG) University and University Hospital M\u00fcnster  M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Werner","family":"Paulus","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University Hospital M\u00fcnster  M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Hasselblatt","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University Hospital M\u00fcnster  M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6642-7774","authenticated-orcid":false,"given":"Christian","family":"Thomas","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University Hospital M\u00fcnster  M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,3,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/noab106"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-018-1879-y"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/62.2.111"},{"issue":"2","key":"e_1_2_9_5_1","first-page":"405","article-title":"Specific Chromosomal Abnormalities in Malignant Human Gliomas","volume":"48","author":"Bigner S. 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