High-grade childhood intra-parenchymal brain tumor clustering with ATRT and expanding the cancer spectrum related to inherited SMARCE1 truncating variations

Acta Neuropathologica Communications - 2022
Fabien Forest1,2, Julien Masliah-Planchon3, Claire Berger4, Fabienne Prieur5, Elodie Girard3, Fanny Burel-Vandenbos6, Claire Boutet7, François Vassal8, Franck Bourdeaut9, Catherine Godfraind10
1Departments of Pathology and Molecular Biology of Tumors, University Hospital of Saint Etienne, Saint Etienne, France
2CHU de Saint Etienne. Hôpital Nord. Service d’Anatomie et Cytologie Pathologiques, Saint Etienne, Cedex2, France
3Department of Genetic, Curie Institute, Paris, France
4Department of Pediatric Haemato-Oncology, University Hospital of Saint Etienne, Saint-Étienne, Lyon University, Jean Monnet University, INSERM, U1059, Sainbiose, Saint Etienne, France
5Department of Genetic, University Hospital of Saint Etienne, Saint Etienne, France
6Department of Pathology, Université Côte d’Azur, CHU Nice, Nice, France
7Department of Radiology, University Hospital of Saint Etienne, Saint Etienne, France
8Department of Neurosurgery, University Hospital of Saint Etienne, Saint Etienne, France
9SIREDO Oncology Center (Care, Innovation and Research for Children and AYA With Cancer), PSL Research University, Institut Curie, Paris, France
10UF of Neuropathology, Clermont-Ferrand CHU and UMR Inserm/Université d’Auvergne U1071, Clermont-Ferrand, France

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Holdhof D, Johann PD, Spohn M, Bockmayr M, Safaei S, Joshi P, Masliah-Planchon J, Ho B, Andrianteranagna M, Bourdeaut F, Huang A, Kool M, Upadhyaya SA, Bendel AE, Indenbirken D, Foulkes WD, Bush JW, Creytens D, Kordes U, Frühwald MC, Hasselblatt M, Schüller U (2021) Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases. Acta Neuropathol 141:291–301. https://doi.org/10.1007/s00401-020-02250-7

Lin B, Kesserwan C, Quinn EA, Einhaus SL, Wright KD, Azzato EM, Orr BA, Upadhyaya SA (2020) Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report. J Pediatr Hematol Oncol 42:e177–e180. https://doi.org/10.1097/MPH.0000000000001361

Sievers P, Sill M, Blume C, Tauziede-Espariat A, Schrimpf D, Stichel D, Reuss DE, Dogan H, Hartmann C, Mawrin C, Hasselblatt M, Stummer W, Schick U, Hench J, Frank S, Ketter R, Schweizer L, Schittenhelm J, Puget S, Brandner S, Jaunmuktane Z, Küsters B, Abdullaev Z, Pekmezci M, Snuderl M, Ratliff M, Herold-Mende C, Unterberg A, Aldape K, Ellison DW, Wesseling P, Reifenberger G, Wick W, Perry A, Varlet P, Pfister SM, Jones DTW, von Deimling A, Sahm F (2021) Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1. Acta Neuropathol 141:281–290. https://doi.org/10.1007/s00401-020-02247-2

Smith MJ, O’Sullivan J, Bhaskar SS, Hadfield KD, Poke G, Caird J, Sharif S, Eccles D, Fitzpatrick D, Rawluk D, du Plessis D, Newman WG, Evans DG (2013) Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. Nat Genet 45:295–298. https://doi.org/10.1038/ng.2552

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Acta Neuropathologica Communications

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