ArticleActa neuropathologica communications2022
YAP1-MAML2 fusion in a pediatric NF2-wildtype intraparenchymal brainstem schwannoma.
Article in Acta neuropathologica communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- VGLL-fused intraparenchymal schwannoma with EWSR1::VGLL1 fusion: integrated clinicopathological and molecular characterization.Acta neuropathologica communications · 2026Article
- ZFTA::YAP1-rearranged ependymoma: is still ZFTA or already YAP?Acta neuropathologica communications · 2026Article
- TANC1::HTRA1 and KPNA4::WWTR1 fusions in non-vestibular intracranial schwannomas.Acta neuropathologica · 2026Article
- Genetic and clinical characteristics of cranial nerve schwannoma harboring SH3PXD2A-HTRA1 fusion gene.Acta neuropathologica · 2025Article
- YAP, TAZ, and Hippo-Dysregulating Fusion Proteins in Cancer.Annual review of cancer biology · 2024Article
- The Intersection of Epigenetic Alterations and Developmental State in Pediatric Ependymomas.Developmental neuroscience · 2024Review
- Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions.Genes, chromosomes & cancer · 2024Article
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Authors and funding
8 authors at 2 institutions in 1 country.
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Abstract
Biallelic inactivation of NF2 represents the primary or sole oncogenic driver event in the vast majority of schwannomas. We report on a four-year-old female who underwent subtotal resection of a right medullary intraparenchymal schwannoma. RNA sequencing revealed an in-frame fusion between exon 5 of YAP1 and exon 2 of MAML2. YAP1-MAML2 fusions have previously been reported in a variety of tumor types, but not schwannomas. Our report expands the spectrum of oncogenic YAP1 gene fusions an alternative to NF2 inactivation to include sporadic schwannoma, analogous to what has recently been described in NF2-wildtype pediatric meningiomas. Appropriate somatic and germline molecular testing should be undertaken in all young patients with solitary schwannoma and meningioma given the high prevalence of an underlying tumor predisposition syndrome. In such patients, the identification of a somatic non-NF2 driver alteration such as this newly described YAP1 fusion, can help ascertain the diagnosis of a sporadic schwannoma.
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