{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T04:26:59Z","timestamp":1790483219844,"version":"4.1.0"},"reference-count":74,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,4,23]],"date-time":"2021-04-23T00:00:00Z","timestamp":1619136000000},"content-version":"am","delay-in-days":387,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annales de Pathologie"],"published-print":{"date-parts":[[2020,4]]},"DOI":"10.1016\/j.annpat.2020.02.019","type":"journal-article","created":{"date-parts":[[2020,3,17]],"date-time":"2020-03-17T01:58:35Z","timestamp":1584410315000},"page":"168-179","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Pr\u00e9disposition h\u00e9r\u00e9ditaire aux tumeurs des syst\u00e8mes nerveux central et p\u00e9riph\u00e9rique"],"prefix":"10.1016","volume":"40","author":[{"given":"Baptiste","family":"Sourty","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Rousseau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.annpat.2020.02.019_bib0375","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1007\/s12017-017-8455-9","article-title":"Molecular basis of pediatric brain tumors","volume":"19","author":"Klonou","year":"2017","journal-title":"Neuromolecular Med"},{"key":"10.1016\/j.annpat.2020.02.019_bib0380","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.pediatrneurol.2018.08.006","article-title":"Genetic evaluation of common neurocutaneous syndromes","volume":"89","author":"Semra","year":"2018","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0385","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1055\/s-0034-1368116","article-title":"Brain tumors and syndromes in children","volume":"45","author":"Bleeker","year":"2014","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.annpat.2020.02.019_bib0390","series-title":"The 2016 WHO classification of tumours of the central nervous system","year":"2016"},{"key":"10.1016\/j.annpat.2020.02.019_bib0395","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.jns.2018.10.006","article-title":"Phenotypic expression of a spectrum of neurofibromatosis type 1 (NF1) mutations identified through NGS and MLPA","volume":"395","author":"Tsipi","year":"2018","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.annpat.2020.02.019_bib0400","unstructured":"Neurofibromatose 1. Protocole National de Diagnostic et de Soins (PNDS) 2016. https:\/\/www.has-sante.fr\/upload\/docs\/application\/pdf\/2016-12\/pnds_-_neurofibromatose_de_type_1.pdf."},{"key":"10.1016\/j.annpat.2020.02.019_bib0405","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/S1474-4422(14)70063-8","article-title":"Neurofibromatosis type 1: a multidisciplinary approach to care","volume":"13","author":"Hirbe","year":"2014","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0410","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1136\/jmg.39.5.311","article-title":"Malignant peripheral nerve sheath tumours in neurofibromatosis","volume":"39","author":"Evans","year":"2002","journal-title":"J Med Genet"},{"key":"10.1016\/j.annpat.2020.02.019_bib0415","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1002\/path.2494","article-title":"Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours","volume":"217","author":"Bottillo","year":"2009","journal-title":"J Pathol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0420","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1245\/s10434-011-1978-7","article-title":"Malignant peripheral nerve sheath tumors (MPNST): the Mayo Clinic experience","volume":"19","author":"Stucky","year":"2012","journal-title":"Ann Surg Oncol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0425","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1038\/ejhg.2011.113","article-title":"Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989","volume":"19","author":"Evans","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.annpat.2020.02.019_bib0430","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1038\/modpathol.2015.134","article-title":"Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics","volume":"29","author":"Schaefer","year":"2016","journal-title":"Mod Pathol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0435","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1097\/PAS.0000000000000564","article-title":"Loss of H3K27me3 expression is a highly sensitive marker for sporadic and radiation-induced MPNST","volume":"40","author":"Prieto-Granada","year":"2016","journal-title":"Am J Surg Pathol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0440","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.humpath.2017.05.010","article-title":"Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in neurofibromatosis 1 patients\u00a0\u2013\u00a0a consensus overview","volume":"67","author":"Miettinen","year":"2017","journal-title":"Hum Pathol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0445","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1097\/CCO.0000000000000576","article-title":"Neurological malignancies in neurofibromatosis type 1","volume":"31","author":"Eolia","year":"2019","journal-title":"Curr Opin Oncol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0450","doi-asserted-by":"crossref","first-page":"2378","DOI":"10.1200\/JCO.2016.71.7199","article-title":"CNS tumors in neurofibromatosis","volume":"35","author":"Campian","year":"2017","journal-title":"J Clin Oncol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0455","doi-asserted-by":"crossref","first-page":"E3","DOI":"10.3171\/FOC-07\/11\/E3","article-title":"Syndromic and sporadic pediatric optic pathway gliomas: review of clinical and histopathological differences and treatment implications","volume":"23","author":"Shamji","year":"2007","journal-title":"Neurosurg Focus"},{"key":"10.1016\/j.annpat.2020.02.019_bib0460","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1001\/archopht.119.4.516","article-title":"Spontaneous regression of optic gliomas: thirteen cases documented by serial neuroimaging","volume":"119","author":"Parsa","year":"2001","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0465","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1177\/0883073817739509","article-title":"Optic pathway gliomas in neurofibromatosis type 1","volume":"33","author":"Campen","year":"2018","journal-title":"J Child Neurol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0470","doi-asserted-by":"crossref","first-page":"8673","DOI":"10.1158\/0008-5472.CAN-08-2097","article-title":"Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas","volume":"68","author":"Jones","year":"2008","journal-title":"Cancer Res"},{"key":"10.1016\/j.annpat.2020.02.019_bib0475","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1101\/gr.142604.112","article-title":"Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma","volume":"23","author":"Gutmann","year":"2013","journal-title":"Genome Res"},{"key":"10.1016\/j.annpat.2020.02.019_bib0480","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1093\/brain\/awg016","article-title":"Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): a retrospective study of 104 patients","volume":"126","author":"Guillamo","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.annpat.2020.02.019_bib0485","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1097\/NEN.0b013e318165eb75","article-title":"Gliomas in neurofibromatosis type 1: a clinicopathologic study","volume":"67","author":"Rodriguez","year":"2008","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0490","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1038\/s41591-018-0263-8","article-title":"The molecular landscape of glioma in patients with neurofibromatosis 1","volume":"25","author":"D\u2019Angelo","year":"2019","journal-title":"Nat Med"},{"key":"10.1016\/j.annpat.2020.02.019_bib0495","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1097\/GIM.0b013e3181ac9a27","article-title":"Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]","volume":"11","author":"Evans","year":"2009","journal-title":"Genet Med"},{"key":"10.1016\/j.annpat.2020.02.019_bib0500","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1097\/MAO.0b013e31815a8411","article-title":"Distribution of nonvestibular cranial nerve schwannomas in neurofibromatosis 2","volume":"28","author":"Fisher","year":"2007","journal-title":"Otol Neurotol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0505","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1046\/j.1365-2559.1998.00336.x","article-title":"Phenotypic diversity of neurofibromatosis 2: association with plexiform schwannoma","volume":"32","author":"Ishida","year":"1998","journal-title":"Histopathology"},{"key":"10.1016\/j.annpat.2020.02.019_bib0510","article-title":"An update on the CNS manifestations of neurofibromatosis type 2","author":"Coy","year":"2019","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0515","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/S0090-3019(96)00487-9","article-title":"A comparative study of embedded nerve tissue in six NF2-associated schwannomas and 17 non-associated NF2 schwannomas","volume":"48","author":"Hamada","year":"1997","journal-title":"Surg Neurol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0520","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1111\/j.1750-3639.2008.00155.x","article-title":"Immunohistochemical analysis supports a role for INI1\/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas","volume":"18","author":"Patil","year":"2008","journal-title":"Brain Pathol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0525","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1007\/s00701-013-1692-2","article-title":"Intracranial meningiomas and neurofibromatosis type 2","volume":"155","author":"Aboukais","year":"2013","journal-title":"Acta Neurochir"},{"key":"10.1016\/j.annpat.2020.02.019_bib0530","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1007\/s11060-010-0339-x","article-title":"Meningiomas and neurofibromatosis","volume":"99","author":"Goutagny","year":"2010","journal-title":"J Neurooncol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0535","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1001\/archopht.124.3.379","article-title":"Optic nerve sheath meningiomas in patients with neurofibromatosis type 2","volume":"124","author":"Bosch","year":"2006","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0540","doi-asserted-by":"crossref","first-page":"610","DOI":"10.3171\/jns.1997.87.4.0610","article-title":"Proliferation potential and histological features in neurofibromatosis 2-associated and sporadic meningiomas","volume":"87","author":"Antinheimo","year":"1997","journal-title":"J Neurosurg"},{"key":"10.1016\/j.annpat.2020.02.019_bib0545","doi-asserted-by":"crossref","first-page":"543","DOI":"10.3171\/2010.11.SPINE10350","article-title":"Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients","volume":"14","author":"Plotkin","year":"2011","journal-title":"J Neurosurg Spine"},{"key":"10.1016\/j.annpat.2020.02.019_bib0550","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/ajmg.a.35760","article-title":"Update From the 2011 International Schwannomatosis Workshop: from genetics to diagnostic criteria","volume":"161A","author":"Plotkin","year":"2013","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.annpat.2020.02.019_bib0555","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1634\/theoncologist.2012-0162","article-title":"Clinical features of schwannomatosis: a retrospective analysis of 87 patients","volume":"17","author":"Merker","year":"2012","journal-title":"Oncologist"},{"key":"10.1016\/j.annpat.2020.02.019_bib0560","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s00439-016-1753-8","article-title":"The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis","volume":"136","author":"Kehrer-Sawatzki","year":"2017","journal-title":"Hum Genet"},{"key":"10.1016\/j.annpat.2020.02.019_bib0565","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.cancergen.2015.02.003","article-title":"Germline and somatic mutations in meningiomas","volume":"208","author":"Smith","year":"2015","journal-title":"Cancer Genet"},{"key":"10.1016\/j.annpat.2020.02.019_bib0570","first-page":"6643","article-title":"Li-Fraumeni and related syndromes: Correlation between tumor type, family structure, and TP53 genotype","volume":"63","author":"Olivier","year":"2003","journal-title":"Cancer Res"},{"key":"10.1016\/j.annpat.2020.02.019_bib0575","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1007\/s00401-009-0528-x","article-title":"Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome","volume":"117","author":"Watanabe","year":"2009","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0580","article-title":"An update on the central nervous system manifestations of Li\u2013Fraumeni syndrome","author":"Orr","year":"2019","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0585","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1016\/S1470-2045(18)30242-0","article-title":"Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort","volume":"19","author":"Waszak","year":"2018","journal-title":"Lancet Oncol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0590","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1158\/1078-0432.CCR-14-1324","article-title":"Molecular characterization of choroid plexus tumors reveals novel clinically relevant subgroups","volume":"21","author":"Merino","year":"2015","journal-title":"Clin Cancer Res"},{"key":"10.1016\/j.annpat.2020.02.019_bib0595","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1200\/JCO.2009.26.8169","article-title":"TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors","volume":"28","author":"Tabori","year":"2010","journal-title":"J Clin Oncol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0600","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/s00401-013-1091-z","article-title":"Nervous system involvement in von Hippel-Lindau disease: pathology and mechanisms","volume":"125","author":"Vortmeyer","year":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0605","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/B978-0-444-62702-5.00010-X","article-title":"Von Hippel-Lindau disease","volume":"132","author":"Chittiboina","year":"2015","journal-title":"Handb Clin Neurol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0610","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1046\/j.1365-2796.1998.00337.x","article-title":"Haemangioblastoma of the central nervous system in von Hippel\u2013Lindau disease","volume":"243","author":"Richard","year":"1998","journal-title":"J Intern Med"},{"key":"10.1016\/j.annpat.2020.02.019_bib0615","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1016\/S0140-6736(03)13643-4","article-title":"Von Hippel-Lindau disease","volume":"361","author":"Lonser","year":"2013","journal-title":"Lancet"},{"key":"10.1016\/j.annpat.2020.02.019_bib0620","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1007\/s11060-019-03189-w","article-title":"Sporadic and Von-Hippel Lindau disease-associated spinal hemangioblastomas: institutional experience on their similarities and differences","volume":"143","author":"Yousef","year":"2019","journal-title":"J Neurooncol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0625","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.pediatrneurol.2013.08.017","article-title":"Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012","volume":"49","author":"Roth","year":"2013","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0630","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.pediatrneurol.2013.08.002","article-title":"Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference","volume":"49","author":"Krueger","year":"2013","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0635","article-title":"An update on the central nervous system manifestations of tuberous sclerosis complex","author":"Cotter","year":"2019","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0640","doi-asserted-by":"crossref","first-page":"128","DOI":"10.5414\/NP300818","article-title":"Consistent nuclear expression of thyroid transcription factor 1 in subependymal giant cell astrocytomas suggests lineage-restricted histogenesis","volume":"34","author":"Hewer","year":"2015","journal-title":"Clin Neuropathol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0645","doi-asserted-by":"crossref","first-page":"95516","DOI":"10.18632\/oncotarget.20764","article-title":"Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1\/TSC2 biallelic inactivation, and no BRAF mutations","volume":"8","author":"Bongaarts","year":"2017","journal-title":"Oncotarget"},{"key":"10.1016\/j.annpat.2020.02.019_bib0650","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1186\/s13023-019-1077-6","article-title":"Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age\u00a0\u2013\u00a0a multicenter retrospective study","volume":"14","author":"Saffari","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.annpat.2020.02.019_bib0655","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1093\/jnci\/djt277","article-title":"Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria","volume":"105","author":"Pilarski","year":"2013","journal-title":"J Natl Cancer Inst"},{"key":"10.1016\/j.annpat.2020.02.019_bib0660","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.wneu.2019.03.131","article-title":"Bilateral recurrent dysplastic cerebellar gangliocytoma (Lhermitte-Duclos Disease) in Cowden syndrome: a case report and literature review","volume":"127","author":"Khandpur","year":"2019","journal-title":"World Neurosurg"},{"key":"10.1016\/j.annpat.2020.02.019_bib0665","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1086\/379382","article-title":"Germline Inactivation of PTEN and dysregulation of the Phosphoinositol-3-Kinase\/Akt pathway cause human Lhermitte-Duclos disease in adults","volume":"73","author":"Zhou","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.annpat.2020.02.019_bib0670","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.wneu.2017.04.147","article-title":"Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) and Cowden syndrome: clinical experience from a single institution with long-term follow-up","volume":"104","author":"Jiang","year":"2017","journal-title":"World Neurosurg"},{"key":"10.1016\/j.annpat.2020.02.019_bib0675","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.bulcan.2018.10.008","article-title":"Syndrome CMMRD (d\u00e9ficience constitutionnelle des g\u00e8nes MMR)\u00a0: bases g\u00e9n\u00e9tiques et aspects cliniques","volume":"106","author":"Buecher","year":"2019","journal-title":"Bull Cancer"},{"key":"10.1016\/j.annpat.2020.02.019_bib0680","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1111\/cge.12904","article-title":"Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1","volume":"91","author":"Wimmer","year":"2017","journal-title":"Clin Genet"},{"key":"10.1016\/j.annpat.2020.02.019_bib0685","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1136\/jmedgenet-2014-102284","article-title":"Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium \u2018Care for CMMRD\u2019 (C4CMMRD)","volume":"51","author":"Wimmer","year":"2014","journal-title":"J Med Genet"},{"key":"10.1016\/j.annpat.2020.02.019_bib0690","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/j.ejca.2013.12.005","article-title":"Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium","volume":"50","author":"Bakry","year":"2014","journal-title":"Eur J Cancer"},{"key":"10.1016\/j.annpat.2020.02.019_bib0695","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1002\/cncr.22475","article-title":"Brain tumors in individuals with familial adenomatous polyposis. A cancer registry experience and pooled case report analysis","volume":"109","author":"Attard","year":"2007","journal-title":"Cancer"},{"key":"10.1016\/j.annpat.2020.02.019_bib0700","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1002\/pbc.22757","article-title":"Clinicopathologic comparison of familial versus sporadic atypical teratoid\/rhabdoid tumors (AT\/RT) of the central nervous system","volume":"56","author":"Bruggers","year":"2011","journal-title":"Pediatr Blood Cancer"},{"key":"10.1016\/j.annpat.2020.02.019_bib0705","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/pbc.22831","article-title":"Spectrum of SMARCB1\/INI1 mutations in familial and sporadic rhabdoid tumors","volume":"56","author":"Eaton","year":"2011","journal-title":"Pediatr Blood Cancer"},{"key":"10.1016\/j.annpat.2020.02.019_bib0710","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/28212","article-title":"Truncating mutations of hSNF5\/INI1 in aggressive paediatric cancer","volume":"394","author":"Versteege","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.annpat.2020.02.019_bib0715","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1158\/1078-0432.CCR-17-0595","article-title":"Cancer surveillance in Gorlin syndrome and rhabdoid tumor predisposition syndrome","volume":"23","author":"Foulkes","year":"2017","journal-title":"Clin Cancer Res"},{"key":"10.1016\/j.annpat.2020.02.019_bib0720","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1111\/ped.12461","article-title":"Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review","volume":"56","author":"Fujii","year":"2014","journal-title":"Pediatr Int"},{"key":"10.1016\/j.annpat.2020.02.019_bib0725","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1002\/cncr.11537","article-title":"Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature","volume":"98","author":"Amlashi","year":"2003","journal-title":"Cancer"},{"key":"10.1016\/j.annpat.2020.02.019_bib0730","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1136\/jmg.2010.083790","article-title":"DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome","volume":"48","author":"Slade","year":"2011","journal-title":"J Med Genet"},{"key":"10.1016\/j.annpat.2020.02.019_bib0735","article-title":"An update on the central nervous system manifestations of DICER1 syndrome","author":"De Kock","year":"2019","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.annpat.2020.02.019_bib0370","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/s00401-018-1935-7","article-title":"ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors","volume":"137","author":"Uro-Coste","year":"2019","journal-title":"Acta Neuropathol"}],"container-title":["Annales de Pathologie"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0242649820300559?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0242649820300559?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:34:46Z","timestamp":1759332886000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0242649820300559"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":74,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["S0242649820300559"],"URL":"https:\/\/doi.org\/10.1016\/j.annpat.2020.02.019","relation":{},"ISSN":["0242-6498"],"issn-type":[{"value":"0242-6498","type":"print"}],"subject":[],"published":{"date-parts":[[2020,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pr\u00e9disposition h\u00e9r\u00e9ditaire aux tumeurs des syst\u00e8mes nerveux central et p\u00e9riph\u00e9rique","name":"articletitle","label":"Article Title"},{"value":"Annales de Pathologie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.annpat.2020.02.019","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}]}}