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A novel BRAF::PTPRN2 fusion in meningioma: a case report

dc.contributor.authorNishanth S. Sadagopan
dc.contributor.authorKhizar R. Nandoliya
dc.contributor.authorMark W. Youngblood
dc.contributor.authorCraig M. Horbinski
dc.contributor.authorJared T. Ahrendsen
dc.contributor.authorStephen T. Magill
dc.contributor.otherDepartment of Neurological Surgery, Northwestern University Feinberg School of Medicine
dc.contributor.otherDepartment of Neurological Surgery, Northwestern University Feinberg School of Medicine
dc.contributor.otherDepartment of Neurological Surgery, Northwestern University Feinberg School of Medicine
dc.contributor.otherDepartment of Neurological Surgery, Northwestern University Feinberg School of Medicine
dc.contributor.otherDepartment of Pathology, Northwestern University Feinberg School of Medicine
dc.contributor.otherDepartment of Neurological Surgery, Northwestern University Feinberg School of Medicine
dc.date.accessioned2023-12-10T12:35:19Z
dc.date.accessioned2025-10-08T08:23:07Z
dc.date.available2025-10-08T08:23:07Z
dc.date.issued01-12-2023
dc.identifier.urihttp://digilib.fisipol.ugm.ac.id/repo/handle/15717717/35698
dc.description.abstractAbstract Gene fusion events have been linked to oncogenesis in many cancers. However, gene fusions in meningioma are understudied compared to somatic mutations, chromosomal gains/losses, and epigenetic changes. Fusions involving B-raf proto-oncogene, serine/threonine kinase (BRAF) are subtypes of oncogenic BRAF genetic abnormalities that have been reported in certain cases of brain tumors, such as pilocytic astrocytomas. However, BRAF fusions have not been recognized in meningioma. We present the case of an adult female presenting with episodic partial seizures characterized by déjà vu, confusion, and cognitive changes. Brain imaging revealed a cavernous sinus and sphenoid wing mass and she underwent resection. Histopathology revealed a World Health Organization (WHO) grade 1 meningioma. Genetic profiling with next generation sequencing and microarray analysis revealed an in-frame BRAF::PTPRN2 fusion affecting the BRAF kinase domain as well as chromothripsis of chromosome 7q resulting in multiple segmental gains and losses including amplifications of cyclin dependent kinase 6 (CDK6), tyrosine protein-kinase Met (MET), and smoothened (SMO). Elevated pERK staining in tumor cells provided evidence of activated mitogen-activated protein kinase (MAPK) signaling. This report raises the possibility that gene fusion events may be involved in meningioma pathogenesis and warrant further investigation.
dc.language.isoEN
dc.publisherBMC
dc.subject.lccNeurology. Diseases of the nervous system
dc.titleA novel BRAF::PTPRN2 fusion in meningioma: a case report
dc.typeArticle
dc.description.keywordsBRAF
dc.description.keywordsPTPRN2
dc.description.keywordsGene Fusion
dc.description.keywordsMeningioma
dc.description.keywordsChromothripsis
dc.description.keywordsChromosome 7q
dc.description.pages1-8
dc.description.doi10.1186/s40478-023-01668-w
dc.title.journalActa Neuropathologica Communications
dc.identifier.e-issn2051-5960
dc.identifier.oai5f2e664e075d46fe959642d1ac07c3a2
dc.journal.infoVolume 11, Issue 1


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