Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes.

doi:10.1007/s00401-023-02561-5

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Article

Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes.

Acta neuropathologica - 1 Jun 2023

Hoffmann Lucas, Coras Roland, Kobow Katja, López-Rivera Javier A, Lal Dennis, Leu Costin, Najm Imad, Nürnberg Peter, Herms Jochen, Harter Patrick N, Bien Christian G, Kalbhenn Thilo, Müller Markus, Pieper Tom, Hartlieb Till, Kudernatsch Manfred, Hamer Hajo, Brandner Sebastian, Rössler Karl, Blümcke Ingmar, Jabari Samir

Abstract excerpt

Exome-wide sequencing studies recently described PTPN11 as a novel brain somatic epilepsy gene. In contrast, germline mutations of PTPN11 are known to cause Noonan syndrome, a multisystem disorder characterized by abnormal facial features, developmental delay, and sporadically, also brain tumors. Herein, we performed a deep phenotype-genotype analysis of a comprehensive series of ganglioglioma (GG) with brain...

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PMID: 36973520
DOI: 10.1007/s00401-023-02561-5
PMCID: PMC10175344

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