Article

Alterations in<i>PTPN11</i>and other RAS-/MAP-Kinase pathway genes define ganglioglioma with adverse clinical outcome and atypic histopathological features

2022-11-22

Abstract excerpt

The PTPN11 gene was recently described as a novel lesional epilepsy gene by extensive exome-wide sequencing studies. However, germline mutations of PTPN11 and other RAS-/MAP -Kinase signaling pathway genes 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 com...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 90f25e1d-2aa5-5a35-b155-7be713c4aa66
DOI: 10.1101/2022.11.20.22282502

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Alterations in<i>PTPN11</i>and other RAS-/MAP-Kinase pathway genes define ganglioglioma with adverse clinical outcome and atypic histopathological featuresDOI 10.1101/2022.11.20.22282502Read

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

Integrated genotype-phenotype analysis of long-term epilepsy-associated ganglioglioma.Semantic proximity Read

Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology.Semantic proximity Read

Review: Challenges in the histopathological classification of ganglioglioma and DNT: microscopic agreement studies and a preliminary genotype‐phenotype analysisSemantic proximity Read

The genetic landscape of ganglioglioma.Semantic proximity Read

PLAG1 fusions define a third subtype of CNS embryonal tumor with PLAG family gene alterationSemantic proximity Read

Systematic review and cumulative analysis of clinical properties of BRAF V600E mutations in PLNTY histological samplesSemantic proximity Read

Systematic review and cumulative analysis of clinical properties of BRAF V600E mutations in PLNTY histological samples.Semantic proximity Read

Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplificationSemantic proximity Read

Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1.Semantic proximity Read