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  • High-grade childhood intra-...
    Forest, Fabien; Masliah-Planchon, Julien; Berger, Claire; Prieur, Fabienne; Girard, Elodie; Burel-Vandenbos, Fanny; Boutet, Claire; Vassal, François; Bourdeaut, Franck; Godfraind, Catherine

    Acta neuropathologica communications, 02/2022, Letnik: 10, Številka: 1
    Journal Article

    Letter to the Editor SMARCE1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1) is a constant component of the SWI/SNF (SWItch/Sucrose Non-Fermentable) chromatin remodeling complexes. The biallelic hit resulting in the loss of protein expression 5 further argues in favor of a driver role of SMARCE1 in our case. ...the tumor we report enlarges the spectrum of SMARCE1-related brain tumors to a so far undescribed high-grade neoplasm. ...a CCM could be formally ruled out because the tumor was not dura matter based, microscopic findings are not consistent with clear cell meningioma, immunohistochemical features were those of a tumor without SSTR2A expression and methylation profiling was clearly in disfavor of this diagnosis.