{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T02:39:40Z","timestamp":1791945580856,"version":"4.3.4"},"reference-count":24,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"10","license":[{"start":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T00:00:00Z","timestamp":1741564800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cosmet Laser Ther"],"published-print":{"date-parts":[[2025,3,10]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>Glioblastoma (GBM) with a primitive neuronal component (PNC) is a recently characterized subtype with a characteristic (epi-)genetic profile and ambiguous microscopic features mimicking a metastasis, making intraoperative diagnosis challenging.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OBSERVATIONS<\/jats:title>\n                    <jats:p>A 62-year-old female presented with word-finding difficulties. MRI showed 2 contrast-enhancing lesions in the temporal lobe. Intraoperatively, a subcortical, well-circumscribed lesion without thrombosed vessels was observed, which is considered unusual for a glial tumor. Minimal microscopic fluorescence was noted after 5-aminolevulinic acid administration. Intraoperative pathological analysis favored a poorly differentiated carcinoma or lymphoma, with a malignant glioma less likely. Immunohistochemical stains were inconclusive; however, tissue submitted for nanopore sequencing suggested a rare subtype of GBM. Subsequent analysis on the Infinium BeadChip methylation microarray confirmed the diagnosis of GBM with a PNC, WHO grade 4.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LESSONS<\/jats:title>\n                    <jats:p>GBM with a PNC is subject to misdiagnosis due to radiographical and pathological features mimicking metastasis. Definitive diagnosis is facilitated with DNA methylation profiling. This case illustrates the limitations and potential pitfalls of conventional intraoperative diagnosis for CNS tumors that now explicitly require molecular testing. Nanopore sequencing, a rapid methylation profiling method, is emerging as a cost-effective and accurate adjunct to traditional frozen section diagnosis.<\/jats:p>\n                    <jats:p>\n                      <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/thejns.org\/doi\/10.3171\/CASE24553\">https:\/\/thejns.org\/doi\/10.3171\/CASE24553<\/jats:ext-link>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/case24553","type":"journal-article","created":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T02:59:58Z","timestamp":1741575598000},"source":"Crossref","is-referenced-by-count":1,"title":["Rare glioblastoma subtype masquerading as a poorly differentiated carcinoma: illustrative case"],"prefix":"10.3171","volume":"9","author":[{"given":"Kim","family":"Harnisch","sequence":"first","affiliation":[{"name":"Department of Pathology and Molecular Pathology, University Hospital Zurich, Switzerland"},{"name":"Institute of Pathology, Pathology Center Zurich, Medica Laboratories Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7904-5572","authenticated-orcid":true,"given":"Alberto","family":"Consuegra","sequence":"additional","affiliation":[{"name":"Endomin\u2013Centre for Endoscopic and Minimally Invasive Neurosurgery, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali Fuat","family":"Okuducu","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Pathology Center Zurich, Medica Laboratories Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Reisch","sequence":"additional","affiliation":[{"name":"Endomin\u2013Centre for Endoscopic and Minimally Invasive Neurosurgery, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Frank","sequence":"additional","affiliation":[{"name":"Institute for Medical Genetics and Pathology, University Hospital of Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Hench","sequence":"additional","affiliation":[{"name":"Institute for Medical Genetics and Pathology, University Hospital of Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Rushing","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Pathology Center Zurich, Medica Laboratories Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"issue":"1","key":"bib1","series-title":"Acta Neuropathol","first-page":"179","article-title":"Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1","volume":"142","author":"Suwala","year":"2021","unstructured":"Suwala AKStichel DSchrimpf DGlioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1. Acta Neuropathol. 2021;142(1):179-189."},{"issue":"1","key":"bib2","series-title":"Brain Pathol","first-page":"81","article-title":"Malignant gliomas with primitive neuroectodermal tumor-like components: a clinicopathologic and genetic study of 53 cases","volume":"19","author":"Perry","year":"2009","unstructured":"Perry AMiller CRGujrati MMalignant gliomas with primitive neuroectodermal tumor-like components: a clinicopathologic and genetic study of 53 cases. Brain Pathol. 2009;19(1):81-90."},{"issue":"2","key":"bib3","series-title":"Oncol Lett","first-page":"341","article-title":"Glioblastoma with a primitive neuronal component: a case report","volume":"26","author":"Ma","year":"2023","unstructured":"Ma QLiu LSun NGlioblastoma with a primitive neuronal component: a case report. Oncol Lett. 2023;26(2):341."},{"issue":"12","key":"bib4","series-title":"J Neuropathol Exp Neurol","first-page":"1092","article-title":"Alterations in the RB pathway with inactivation of RB1 characterize glioblastomas with a primitive neuronal component","volume":"80","author":"Chkheidze","year":"2021","unstructured":"Chkheidze RRaisanen JGagan JAlterations in the RB pathway with inactivation of RB1 characterize glioblastomas with a primitive neuronal component. J Neuropathol Exp Neurol. 2021;80(12):1092-1098."},{"issue":"7697","key":"bib5","series-title":"Nature","first-page":"469","article-title":"DNA methylation-based classification of central nervous system tumours","volume":"555","author":"Capper","year":"2018","unstructured":"Capper DJones DTSill MDNA methylation-based classification of central nervous system tumours. Nature. 2018;555(7697):469-474."},{"issue":"8","key":"bib6","series-title":"Neuro Oncol","first-page":"1231","article-title":"T","volume":"23","author":"Louis","year":"2021","unstructured":"Louis DNPerry AWesseling PThe 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol. 2021;23(8):1231-1251."},{"issue":"5","key":"bib7","series-title":"Acta Neuropathol","first-page":"691","article-title":"Same-day genomic and epigenomic diagnosis of brain tumors using real-time nanopore sequencing","volume":"134","author":"Euskirchen","year":"2017","unstructured":"Euskirchen PBielle FLabreche KSame-day genomic and epigenomic diagnosis of brain tumors using real-time nanopore sequencing. Acta Neuropathol. 2017;134(5):691-703."},{"issue":"1","key":"bib8","series-title":"Neuropathol Appl Neurobiol","article-title":"Robust methylation-based classification of brain tumours using nanopore sequencing","volume":"49","author":"Kuschel","year":"2023","unstructured":"Kuschel LPHench JFrank SRobust methylation-based classification of brain tumours using nanopore sequencing. Neuropathol Appl Neurobiol. 2023;49(1):e12856."},{"issue":"1","key":"bib9","series-title":"Acta Neuropathol Commun","first-page":"51","article-title":"EpiDiP\/NanoDiP: a versatile unsupervised machine learning edge computing platform for epigenomic tumour diagnostics","volume":"12","author":"Hench","year":"2024","unstructured":"Hench JHultschig CBrugger JEpiDiP\/NanoDiP: a versatile unsupervised machine learning edge computing platform for epigenomic tumour diagnostics. 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Acta Neuropathol. 2017;134(5):691-703."},{"issue":"1","key":"bib8","series-title":"Neuropathol Appl Neurobiol","article-title":"Robust methylation-based classification of brain tumours using nanopore sequencing","volume":"49","author":"Kuschel","year":"2023","unstructured":"Kuschel LPHench JFrank SRobust methylation-based classification of brain tumours using nanopore sequencing. Neuropathol Appl Neurobiol. 2023;49(1):e12856."},{"issue":"1","key":"bib9","series-title":"Acta Neuropathol Commun","first-page":"51","article-title":"EpiDiP\/NanoDiP: a versatile unsupervised machine learning edge computing platform for epigenomic tumour diagnostics","volume":"12","author":"Hench","year":"2024","unstructured":"Hench JHultschig CBrugger JEpiDiP\/NanoDiP: a versatile unsupervised machine learning edge computing platform for epigenomic tumour diagnostics. Acta Neuropathol Commun. 2024;12(1):51."},{"issue":"1","key":"bib10","series-title":"Neurooncol Adv","first-page":"vdab149","article-title":"Intraoperative DNA methylation classification of brain tumors impacts neurosurgical strategy","volume":"3","author":"Djirackor","year":"2021","unstructured":"Djirackor LHalldorsson SNiehusmann PIntraoperative DNA methylation classification of brain tumors impacts neurosurgical strategy. Neurooncol Adv. 2021;3(1):vdab149."},{"issue":"7984","key":"bib11","series-title":"Nature","first-page":"842","article-title":"Ultra-fast deep-learned CNS tumour classification during surgery","volume":"622","author":"Vermeulen","year":"2023","unstructured":"Vermeulen CPag\u00e8s-Gallego MKester LUltra-fast deep-learned CNS tumour classification during surgery. Nature. 2023;622(7984):842-849."},{"issue":"43","key":"bib12","series-title":"J Korean Med Sci","first-page":"e356","article-title":"Brain tumor classification by methylation profile","volume":"38","author":"Park","year":"2023","unstructured":"Park JWLee KKim EEKim SIPark SH.Brain tumor classification by methylation profile. 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