YAP1-MAML2 fusion in a pediatric NF2-wildtype intraparenchymal brainstem schwannoma Journal Article

   


Authors: Karajannis, M. A.; Li, B. K.; Souweidane, M. M.; Liechty, B.; Yao, J.; Benhamida, J. K.; Bale, T. A.; Rosenblum, M. K.
Article Title: YAP1-MAML2 fusion in a pediatric NF2-wildtype intraparenchymal brainstem schwannoma
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. © 2022, The Author(s).
Keywords: child; preschool child; child, preschool; genetics; case report; transcription factor; pathology; pediatric; transcription factors; meningeal neoplasms; transactivator protein; gene fusion; trans-activators; meningioma; brain stem; schwannoma; neurilemoma; neurilemmoma; neurofibromatosis 2; humans; human; female; neurofibromatosis type 2; mastermind like transcriptional coactivator 2 (maml2); yes1 associated transcriptional regulator (yap1); maml2 protein, human; yap1 protein, human; yap-signaling proteins
Journal Title: Acta Neuropathologica Communications
Volume: 10
ISSN: 2051-5960
Publisher: BioMed Central Ltd.  
Date Published: 2022-08-19
Start Page: 117
Language: English
DOI: 10.1186/s40478-022-01423-7
PUBMED: 35986430
PROVIDER: scopus
PMCID: PMC9392329
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85136503287&doi=10.1186%2fs40478-022-01423-7&partnerID=40&md5=268f103a3486da1eb32f896e78d39227
Notes: Article -- Export Date: 3 October 2022 -- Source: Scopus
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MSK Authors
  1. Matthias Angelos Karajannis
    142 Karajannis
  2. Marc Rosenblum
    424 Rosenblum
  3. Jinjuan Yao
    59 Yao
  4. Mark Musa Souweidane
    219 Souweidane
  5. Jamal Khalil Benhamida
    80 Benhamida
  6. Tejus Bale
    122 Bale
  7. Kincheon Bryan Li
    8 Li
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