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Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.
Rivera B, Gayden T, Carrot-Zhang J, Nadaf J, Boshari T, Faury D, Zeinieh M, Blanc R, Burk DL, Fahiminiya S, Bareke E, Schüller U, Monoranu CM, Sträter R, Kerl K, Niederstadt T, Kurlemann G, Ellezam B, Michalak Z, Thom M, Lockhart PJ, Leventer RJ, Ohm M, MacGregor D, Jones D, Karamchandani J, Greenwood CM, Berghuis AM, Bens S, Siebert R, Zakrzewska M, Liberski PP, Zakrzewski K, Sisodiya SM, Paulus W, Albrecht S, Hasselblatt M, Jabado N, Foulkes WD, Majewski J. Rivera B, et al. Acta Neuropathol. 2016 Jun;131(6):847-63. doi: 10.1007/s00401-016-1549-x. Epub 2016 Feb 26. Acta Neuropathol. 2016. PMID: 26920151 Free PMC article.
Dysembryoplastic neuroepithelial tumor (DNET) is a benign brain tumor associated with intractable drug-resistant epilepsy. ...By whole-exome sequencing of the familial cases, we identified a novel germline FGFR1 mutation, p.R661P. Somatic activa …
Dysembryoplastic neuroepithelial tumor (DNET) is a benign brain tumor associated with intractable drug-resistant epilepsy. ... …
PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants.
Kohanbash G, Ryall S, Gary SE, Hoffman LM, Siddaway R, Bendel AE, Gripp KW, Walter AW, Hansford JR, Smith AA, Wang H, Skaugen JM, Tabori U, Hawkins CE, Broniscer A. Kohanbash G, et al. J Neurooncol. 2026 Mar 5;177(1):31. doi: 10.1007/s11060-026-05478-7. J Neurooncol. 2026. PMID: 41784910 Free PMC article.
Fourteen of 15 (93%) tumors collected from 13 patients with NS and germline PTPN11 variants harbored somatic FGFR1 abnormalities. ...Herein, we show that individuals with NS and germline PTPN11 variants, particularly those with NM_002834. …
Fourteen of 15 (93%) tumors collected from 13 patients with NS and germline PTPN11 variants harbored somatic FGFR1 …
PTPN11-Related Noonan Syndrome Predisposes to Multifocal Low-Grade CNS Tumors Harboring FGFR1 Variants.
Kohanbash G, Ryall S, Gary SE, Hoffman LM, Siddaway R, Bendel AE, Gripp KW, Walter AW, Hansford JR, Smith AA, Wang H, Skaugen JM, Tabori U, Hawkins CE, Broniscer A. Kohanbash G, et al. Res Sq [Preprint]. 2026 Jan 28:rs.3.rs-8662616. doi: 10.21203/rs.3.rs-8662616/v1. Res Sq. 2026. Update in: J Neurooncol. 2026 Mar 5;177(1):31. doi: 10.1007/s11060-026-05478-7. PMID: 41646294 Free PMC article. Updated. Preprint.
RESULTS: Nineteen (79%) of 24 participants had NS, 17/19 (89%) of which had a germline PTPN11 variant; Nineteen of 24 participants (79%) were male. Seventeen (89%) patients with NS developed CNS cancers, including low-grade glioma, (LGG; pure pilocytic/pilomyxoid astrocyto …
RESULTS: Nineteen (79%) of 24 participants had NS, 17/19 (89%) of which had a germline PTPN11 variant; Nineteen of 24 participants (7 …