{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:08:05Z","timestamp":1789704485031,"version":"4.0.1"},"reference-count":55,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T00:00:00Z","timestamp":1783900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T00:00:00Z","timestamp":1783900800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["202105_INNOV_Onet"],"award-info":[{"award-number":["202105_INNOV_Onet"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Genomic instability is common in cancer, driven by different mechanisms and often linked to disease stage and progression. Optical genome mapping (OGM) enables the detection of genome\u2010wide balanced and unbalanced structural rearrangements (SRs), providing an overview of genomic complexity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>To explore the utility of OGM in brain tumour characterisation, we conducted a pilot study on a well\u2010characterised series of 43, mostly paediatric, cases encompassing different histotypes and enriched for gene fusion\u2010positive neoplasms (30 cases).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      SRs were observed in 37\/43 samples and defined three genomic patterns based on their number and distribution across the chromosomes: SR\u2010chromothripsis (11 cases), high SR\u2010complexity (11 cases) and low SR\u2010complexity (21 cases). Genomic complexity was also assessed according to the number of copy number alterations (CNA) and, to this end, in SR\u2010chromothripsis samples, only CNAs affecting chromosomes not involved in chromothripsis were considered: absence of CNAs was found in 15 cases, 1\u20139 CNAs in 19 cases, 10\u201349 CNAs in three cases and \u2265\u200950 CNAs in six cases. When examining the relationship between SR and CNA, a positive correlation emerged between CNA burden and the number of chromosomes harbouring SR (Spearman's\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u20090.588,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.0001), while breakpoint number was weakly associated; chromothripsis occurred exclusively within low CNA\u2010complexity groups (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.0836). Genome complexity patterns correlated with tumour types, with diffuse high\u2010grade gliomas exhibiting high complexity, whereas infant\u2010type hemispheric gliomas, most low\u2010grade gliomas and embryonal tumours showed low complexity profiles. Importantly, SR\u2010chromothripsis cases corresponded to low\/intermediate\u2010grade fusion\u2010driven tumours, with balanced\/nearly balanced CNA profiles. OGM allowed the detection of gene fusions in 24\/30 cases, failing in six. When integrated with RNA sequencing, OGM unveiled the mechanisms underlying gene fusion formation in all cases: chromothripsis (11 cases), isolated chromosomal abnormalities (12 cases) and genome\u2010wide alterations (seven cases).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>OGM reveals distinct genomic complexity patterns and refines the definition of chromothripsis, improving insights into tumourigenic mechanisms.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/nan.70092","type":"journal-article","created":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T01:39:16Z","timestamp":1783993156000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Utility of Optical Genome Mapping in the Characterisation of the Global Genomic Architecture of Paediatric Central Nervous System Tumours: A Pilot Study"],"prefix":"10.1111","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7514-5683","authenticated-orcid":false,"given":"Viola","family":"Alesi","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5514-5018","authenticated-orcid":false,"given":"Silvia","family":"Genovese","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Russo","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome 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