{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,12]],"date-time":"2026-11-12T04:39:10Z","timestamp":1794458350590,"version":"4.9.1"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T00:00:00Z","timestamp":1749772800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T00:00:00Z","timestamp":1749772800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["acta neuropathol commun"],"DOI":"10.1186\/s40478-025-02044-6","type":"journal-article","created":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T10:25:34Z","timestamp":1749810334000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["ATRX loss in adult gliomas lacking H3 alterations or IDH mutations, an exceptional situation for exceptional diagnoses: the experience of Sainte-Anne hospital"],"prefix":"10.1186","volume":"13","author":[{"given":"Arnault","family":"Tauzi\u00e8de-Espariat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Roux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Benzakoun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Kauv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanaa","family":"Tazi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"M\u00e9tais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail K.","family":"Suwala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00b7Felix","family":"Hinz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00b7Lauren","family":"Hasty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Filser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Masliah-Planchon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rapha\u00ebl","family":"Saffroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot","family":"Bucau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan","family":"Pallud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Varlet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,6,13]]},"reference":[{"issue":"1","key":"2044_CR1","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1007\/s00401-014-1370-3","volume":"129","author":"DE Reuss","year":"2015","unstructured":"Reuss DE, Sahm F, Schrimpf D, Wiestler B, Capper D, Koelsche C et al (2015) ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an \u201cintegrated\u201d diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. Acta Neuropathol (Berl) 129(1):133\u2013146","journal-title":"Acta Neuropathol (Berl)"},{"issue":"1","key":"2044_CR2","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1186\/s40478-016-0331-6","volume":"4","author":"A Ebrahimi","year":"2016","unstructured":"Ebrahimi A, Skardelly M, Bonzheim I, Ott I, M\u00fchleisen H, Eckert F et al (2016) ATRX immunostaining predicts IDH and H3F3A status in gliomas. Acta Neuropathol Commun 4(1):60","journal-title":"Acta Neuropathol Commun"},{"issue":"8","key":"2044_CR3","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1093\/neuonc\/noab106","volume":"23","author":"DN Louis","year":"2021","unstructured":"Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D et al (2021) The 2021 WHO classification of tumors of the central nervous system: a summary. Neuro-Oncol 23(8):1231\u20131251","journal-title":"Neuro-Oncol"},{"issue":"2","key":"2044_CR4","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1007\/s00401-018-1837-8","volume":"136","author":"A Reinhardt","year":"2018","unstructured":"Reinhardt A, Stichel D, Schrimpf D, Sahm F, Korshunov A, Reuss DE et al (2018) Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A\/B and ATRX alterations. Acta Neuropathol (Berl) 136(2):273\u2013291","journal-title":"Acta Neuropathol (Berl)"},{"issue":"1","key":"2044_CR5","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1007\/s11060-021-03749-z","volume":"153","author":"K Bender","year":"2021","unstructured":"Bender K, Perez E, Chirica M, Onken J, Kahn J, Brenner W et al (2021) High-grade astrocytoma with piloid features (HGAP): the Charit\u00e9 experience with a new central nervous system tumor entity. J Neurooncol 153(1):109\u2013120","journal-title":"J Neurooncol"},{"issue":"5","key":"2044_CR6","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1007\/s00401-023-02558-0","volume":"145","author":"H Bogumil","year":"2023","unstructured":"Bogumil H, Sill M, Schrimpf D, Ismer B, Blume C, Rahmanzade R et al (2023) Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA): a molecularly distinct brain tumor type with recurrent NTRK gene fusions. Acta Neuropathol (Berl) 145(5):667\u2013680","journal-title":"Acta Neuropathol (Berl)"},{"issue":"1","key":"2044_CR7","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1186\/s40478-024-01881-1","volume":"12","author":"A Tauzi\u00e8de-Espariat","year":"2024","unstructured":"Tauzi\u00e8de-Espariat A, Friker LL, Nussbaumer G, Bison B, Dangouloff-Ros V, M\u00e9tais A et al (2024) Diffuse pediatric high-grade glioma of methylation-based RTK2A and RTK2B subclasses present distinct radiological and histomolecular features including Gliomatosis cerebri phenotype. Acta Neuropathol Commun 12(1):176","journal-title":"Acta Neuropathol Commun"},{"issue":"1","key":"2044_CR8","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1186\/s40478-024-01818-8","volume":"12","author":"A Tauzi\u00e8de-Espariat","year":"2024","unstructured":"Tauzi\u00e8de-Espariat A, Castel D, Ajlil Y, Auffret L, Appay R, Mariet C et al (2024) Atrx loss as a promising screening tool for the identification of diffuse midline glioma subtype, H3K27\/MAPKinase co-altered. Acta Neuropathol Commun 12(1):105","journal-title":"Acta Neuropathol Commun"},{"issue":"10","key":"2044_CR9","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1093\/jnen\/nlae064","volume":"83","author":"V Zschernack","year":"2024","unstructured":"Zschernack V, Thomas C, Schaub C, Kristiansen G, Waha A, Goschzik T et al (2024) FH-mutant glioma displaying the epigenetic signature of IDH-mutant astrocytomas. J Neuropathol Exp Neurol 83(10):887\u2013889","journal-title":"J Neuropathol Exp Neurol"},{"issue":"1","key":"2044_CR10","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1093\/jnen\/nlac107","volume":"82","author":"A Raghunathan","year":"2022","unstructured":"Raghunathan A, Ida CM, Westbroek EM, Gupta S, Jenkins RB, Giannini C et al (2022) Mutations of FH and IDH may induce gliomagenesis by similar mechanisms. J Neuropathol Exp Neurol 82(1):99\u2013100","journal-title":"J Neuropathol Exp Neurol"},{"issue":"5","key":"2044_CR11","doi-asserted-by":"publisher","first-page":"209","DOI":"10.5414\/NP301104","volume":"37","author":"A Tauzi\u00e8de-Espariat","year":"2018","unstructured":"Tauzi\u00e8de-Espariat A, Saffroy R, Pag\u00e8s M, Pallud J, Legrand L, Besnard A et al (2018) Cerebellar high-grade gliomas do not present the same molecular alterations as supratentorial high-grade gliomas and may show histone H3 gene mutations. Clin Neuropathol 37(5):209\u2013216","journal-title":"Clin Neuropathol"},{"issue":"10","key":"2044_CR12","doi-asserted-by":"publisher","first-page":"1627","DOI":"10.1200\/JCO.2008.17.9432","volume":"27","author":"S Pfister","year":"2009","unstructured":"Pfister S, Remke M, Benner A, Mendrzyk F, Toedt G, Felsberg J et al (2009) Outcome prediction in pediatric medulloblastoma based on DNA copy-number aberrations of chromosomes 6q and 17q and the MYC and MYCN loci. J Clin Oncol Off J Am Soc Clin Oncol 27(10):1627\u20131636","journal-title":"J Clin Oncol Off J Am Soc Clin Oncol"},{"issue":"1","key":"2044_CR13","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","volume":"29","author":"A Dobin","year":"2013","unstructured":"Dobin A, Davis CA, Schlesinger F, Drenkow J, Zaleski C, Jha S et al (2013) STAR: ultrafast universal RNA-seq aligner. Bioinformatics 29(1):15\u201321","journal-title":"Bioinformatics"},{"issue":"8","key":"2044_CR14","doi-asserted-by":"publisher","first-page":"1220","DOI":"10.1093\/bioinformatics\/btv710","volume":"32","author":"X Chen","year":"2016","unstructured":"Chen X, Schulz-Trieglaff O, Shaw R, Barnes B, Schlesinger F, K\u00e4llberg M et al (2016) Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications. Bioinformatics 32(8):1220\u20131222","journal-title":"Bioinformatics"},{"issue":"4","key":"2044_CR15","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1007\/s00401-020-02194-y","volume":"140","author":"R Banan","year":"2020","unstructured":"Banan R, Stichel D, Bleck A, Hong B, Lehmann U, Suwala A et al (2020) Infratentorial IDH-mutant astrocytoma is a distinct subtype. Acta Neuropathol (Berl) 140(4):569\u2013581","journal-title":"Acta Neuropathol (Berl)"},{"issue":"2","key":"2044_CR16","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1111\/his.12927","volume":"69","author":"M Ikemura","year":"2016","unstructured":"Ikemura M, Shibahara J, Mukasa A, Takayanagi S, Aihara K, Saito N et al (2016) Utility of ATRX immunohistochemistry in diagnosis of adult diffuse gliomas. Histopathology 69(2):260\u2013267","journal-title":"Histopathology"},{"issue":"7","key":"2044_CR17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0041298","volume":"7","author":"U Lass","year":"2012","unstructured":"Lass U, N\u00fcmann A, von Eckardstein K, Kiwit J, Stockhammer F, Horaczek JA et al (2012) Clonal analysis in recurrent astrocytic, oligoastrocytic and oligodendroglial tumors implicates IDH1- mutation as common tumor initiating event. PLoS ONE 7(7):e41298","journal-title":"PLoS ONE"},{"issue":"1","key":"2044_CR18","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1186\/s40478-024-01908-7","volume":"12","author":"R Landvater","year":"2024","unstructured":"Landvater R, Tripathy A, Nieblas-Bedolla E, Shao L, Conway K, Al-Holou W et al (2024) Sarcomatous transformation of IDH-mutant astrocytoma matching to methylation class oligosarcoma following embolization, a case report. Acta Neuropathol Commun 12(1):196","journal-title":"Acta Neuropathol Commun"},{"issue":"1","key":"2044_CR19","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1186\/s40478-024-01879-9","volume":"12","author":"J Yamaguchi","year":"2024","unstructured":"Yamaguchi J, Ohka F, Seki M, Motomura K, Deguchi S, Shiba Y et al (2024) Dual phenotypes in recurrent astrocytoma, IDH-mutant; coexistence of IDH-mutant and IDH-wildtype components: a case report with genetic and epigenetic analysis. Acta Neuropathol Commun 12(1):169","journal-title":"Acta Neuropathol Commun"},{"issue":"1","key":"2044_CR20","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1007\/s00401-025-02849-8","volume":"149","author":"F Hinz","year":"2025","unstructured":"Hinz F, Friedel D, Korshunov A, Ippen FM, Bogumil H, Banan R et al (2025) IDH-mutant astrocytomas with primitive neuronal component have a distinct methylation profile and a higher risk of leptomeningeal spread. Acta Neuropathol (Berl) 149(1):12","journal-title":"Acta Neuropathol (Berl)"},{"issue":"1","key":"2044_CR21","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/s00401-021-02302-6","volume":"142","author":"AK Suwala","year":"2021","unstructured":"Suwala AK, Stichel D, Schrimpf D, Maas SLN, Sill M, Dohmen H et al (2021) Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1. Acta Neuropathol (Berl) 142(1):179\u2013189","journal-title":"Acta Neuropathol (Berl)"},{"issue":"12","key":"2044_CR22","doi-asserted-by":"publisher","first-page":"1092","DOI":"10.1093\/jnen\/nlab109","volume":"80","author":"R Chkheidze","year":"2021","unstructured":"Chkheidze R, Raisanen J, Gagan J, Richardson TE, Pinho MC, Raj K et al (2021) Alterations in the RB Pathway with inactivation of RB1 characterize glioblastomas with a primitive neuronal component. J Neuropathol Exp Neurol 80(12):1092\u20131098","journal-title":"J Neuropathol Exp Neurol"},{"issue":"10","key":"2044_CR23","doi-asserted-by":"publisher","first-page":"1546","DOI":"10.1038\/s41416-023-02412-w","volume":"129","author":"L Valcarcel-Jimenez","year":"2023","unstructured":"Valcarcel-Jimenez L, Frezza C (2023) Fumarate hydratase (FH) and cancer: a paradigm of oncometabolism. Br J Cancer 129(10):1546\u20131557","journal-title":"Br J Cancer"},{"issue":"11","key":"2044_CR24","doi-asserted-by":"publisher","first-page":"1457","DOI":"10.1097\/PAS.0000000000000719","volume":"40","author":"SC Smith","year":"2016","unstructured":"Smith SC, Trpkov K, Chen YB, Mehra R, Sirohi D, Ohe C et al (2016) Tubulocystic carcinoma of the kidney with poorly differentiated foci: a frequent morphologic pattern of fumarate hydratase-deficient renal cell carcinoma. Am J Surg Pathol 40(11):1457\u20131472","journal-title":"Am J Surg Pathol"},{"issue":"5","key":"2044_CR25","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1097\/PAS.0000000000000573","volume":"40","author":"WJ Harrison","year":"2016","unstructured":"Harrison WJ, Andrici J, Maclean F, Madadi-Ghahan R, Farzin M, Sioson L et al (2016) Fumarate hydratase-deficient uterine leiomyomas occur in both the syndromic and sporadic settings. Am J Surg Pathol 40(5):599\u2013607","journal-title":"Am J Surg Pathol"},{"issue":"1","key":"2044_CR26","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1007\/s00401-022-02513-5","volume":"145","author":"PJ Cimino","year":"2023","unstructured":"Cimino PJ, Ketchum C, Turakulov R, Singh O, Abdullaev Z, Giannini C et al (2023) Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1. Acta Neuropathol (Berl) 145(1):71\u201382","journal-title":"Acta Neuropathol (Berl)"},{"key":"2044_CR27","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2024-0268-RA","author":"MA Rudolf","year":"2025","unstructured":"Rudolf MA, Ferris SP (2025) High-grade astrocytoma with piloid features. Arch Pathol Lab Med. https:\/\/doi.org\/10.5858\/arpa.2024-0268-RA","journal-title":"Arch Pathol Lab Med"},{"issue":"1","key":"2044_CR28","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1038\/s41698-024-00734-3","volume":"8","author":"J Staunton","year":"2024","unstructured":"Staunton J, Ajuyah P, Harris A, Mayoh C, Wong M, Rumford M et al (2024) Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome. NPJ Precis Oncol 8(1):236","journal-title":"NPJ Precis Oncol"},{"issue":"2","key":"2044_CR29","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1016\/j.cell.2013.09.034","volume":"155","author":"CW Brennan","year":"2013","unstructured":"Brennan CW, Verhaak RGW, McKenna A, Campos B, Noushmehr H, Salama SR et al (2013) The somatic genomic landscape of glioblastoma. Cell 155(2):462\u2013477","journal-title":"Cell"}],"container-title":["Acta Neuropathologica Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40478-025-02044-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40478-025-02044-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40478-025-02044-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T10:25:34Z","timestamp":1749810334000},"score":1,"resource":{"primary":{"URL":"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-025-02044-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,13]]},"references-count":29,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["2044"],"URL":"https:\/\/doi.org\/10.1186\/s40478-025-02044-6","relation":{},"ISSN":["2051-5960"],"issn-type":[{"value":"2051-5960","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,13]]},"assertion":[{"value":"7 April 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 June 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by GHU Paris Psychiatry and Neurosciences, Sainte-Anne Hospital\u2019s local ethic committee.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patient signed informed consent forms before treatment was started.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no conflicts of interest directly related to the topic of this article.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"131"}}