{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:45:56Z","timestamp":1787013956604,"version":"build-2736575974"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T00:00:00Z","timestamp":1734480000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain Pathology"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Adult primary leptomeningeal gliomatosis (PLG) is a rare, rapidly progressive and fatal disease characterized by prominent leptomeningeal infiltration by a glial tumor without an identifiable parenchymal mass. The molecular profile of adult PLG has not been well\u2010characterized. We report the clinical, pathological, and molecular findings of six adult PLG patients (five males and one female), median age 58\u2009years. All cases exhibited pathological leptomeningeal enhancement at presentation. Leptomeningeal biopsy was diagnostic in five (of six) cases, revealing infiltration by an astrocytic glioma with mitotic activity, lacking microvascular proliferation or necrosis. One case was diagnosed at autopsy. All tumors were IDH\u2010wildtype, with five harboring\n                    <jats:italic>TERT<\/jats:italic>\n                    promoter mutations. Additional mutations identified were\n                    <jats:italic>PTEN<\/jats:italic>\n                    in one case,\n                    <jats:italic>TP53<\/jats:italic>\n                    in two cases, and\n                    <jats:italic>NF1<\/jats:italic>\n                    in two cases. A chromosome profile with +7\/\u221210 was found in four cases, whereas the remaining two showed either chromosome 7 or 7p gain only. Four cases showed chromosome 9p loss with\n                    <jats:italic>CDKN2A\/B<\/jats:italic>\n                    homozygous deletion, one case showed hemizygous\n                    <jats:italic>CDKN2A\/B<\/jats:italic>\n                    loss, and one case showed intact chromosome 9 and\n                    <jats:italic>CDK4\/GLI1<\/jats:italic>\n                    amplification. DNA methylation profiling was performed in four cases and revealed a match to glioblastoma (GBM) family and mesenchymal typical class with high confidence scores in two cases; the other two cases showed only suggestive combined scores for GBM family and mesenchymal atypical class. The molecular profile of all cases closely aligned with that of adult\u2010type GBM, IDH\u2010wildtype, CNS WHO grade 4. All patients succumbed to the disease. In five cases with extensive leptomeningeal disease at diagnosis, the course was rapid, with median survival of 24\u2009days following palliative care. Only one case, with relatively localized disease at diagnosis, received chemoradiation therapy and survived 535\u2009days, raising the possibility that early diagnosis and timely treatment could improve outcome. A detailed list of previously reported cases is provided in a supplementary table.\n                  <\/jats:p>","DOI":"10.1111\/bpa.13326","type":"journal-article","created":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T04:53:16Z","timestamp":1734497596000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Molecular profile of adult primary leptomeningeal gliomatosis aligns with glioblastoma,\n                    <scp>IDH<\/scp>\n                    \u2010wildtype"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1778-8880","authenticated-orcid":false,"given":"Yi","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darin D.","family":"Carabenciov","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek R.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Radiology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge A.","family":"Trejo\u2010Lopez","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aivi T.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aditya","family":"Raghunathan","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Lanzino","sequence":"additional","affiliation":[{"name":"Department of Neurologic Surgery Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2768-2913","authenticated-orcid":false,"given":"Cristiane M.","family":"Ida","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinthya J.","family":"Zepeda\u2010Mendoza","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Surendra","family":"Dasari","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2036-6697","authenticated-orcid":false,"given":"Emilie","family":"Russler\u2010Germain","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Department of Pathology and Immunology Washington University in St. Louis School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5585-0964","authenticated-orcid":false,"given":"Sonika","family":"Dahiya","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Department of Pathology and Immunology Washington University in St. Louis School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martha","family":"Quezado","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology, Center for Cancer Research National Cancer Institute  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth","family":"Aldape","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology, Center for Cancer Research National Cancer Institute  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Giannini","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Biomedical and Neuromotor Sciences (DIBINEM) Alma Mater Studiorum, University of Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007529"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2010.09.006"},{"issue":"5","key":"e_1_2_9_4_1","article-title":"Diffuse leptomeningeal glioneuronal tumour","volume":"15","author":"Saliba T","year":"2023","journal-title":"Cureus"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-012-1037-x"},{"key":"e_1_2_9_6_1","volume-title":"WHO classification of tumours of the central nervous system","author":"Louis DN","year":"2016"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-195401000-00010"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/02688697.2019.1688253"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2009.08.047"},{"issue":"3","key":"e_1_2_9_10_1","first-page":"232","article-title":"Primary meningeal gliomatosis","volume":"150","author":"Carpentier AF","year":"1994","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1006399804896"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10014-014-0187-z"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1227\/NEU.0000000000001028"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0b013e318296f23d"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuchi.2017.12.007"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10014-014-0176-2"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-024-02792-0"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.14791\/btrt.2015.3.1.34"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlab075"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.10.002"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.12874"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2012.06.005"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-022-02513-5"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-012-1016-2"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01050075"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1981.00510100090018"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.5414\/NP301018"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.70.2.256"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2010.07.144"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2014-000933"},{"issue":"4","key":"e_1_2_9_31_1","first-page":"325","article-title":"Primary diffuse leptomeningeal gliomatosis: an autopsy case and review of the literature","volume":"110","author":"Somja J","year":"2010","journal-title":"Acta Neurol Belg"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.4.471"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01404866"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11060-006-9219-9"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1126\/scisignal.2004088"}],"container-title":["Brain Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bpa.13326","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T12:22:15Z","timestamp":1754914935000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bpa.13326"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,18]]},"references-count":34,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1111\/bpa.13326"],"URL":"https:\/\/doi.org\/10.1111\/bpa.13326","archive":["Portico"],"relation":{},"ISSN":["1015-6305","1750-3639"],"issn-type":[{"value":"1015-6305","type":"print"},{"value":"1750-3639","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,18]]},"assertion":[{"value":"2024-10-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e13326"}}