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Taule-Sivertsen P, Bruland O, Håvik AL, et al. The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients. J Neurooncol. 2021;154(1):35-40doi: 10.1007/s11060-021-03796-6.
Taule-Sivertsen, P., Bruland, O., Håvik, A. L., Bratland, E., Lund-Johansen, M., & Knappskog, P. M. (2021). The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients. Journal of neuro-oncology, 154(1), 35-40. https://doi.org/10.1007/s11060-021-03796-6
Taule-Sivertsen, Peter, et al. "The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients." Journal of neuro-oncology vol. 154,1 (2021): 35-40. doi: https://doi.org/10.1007/s11060-021-03796-6
Taule-Sivertsen P, Bruland O, Håvik AL, Bratland E, Lund-Johansen M, Knappskog PM. The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients. J Neurooncol. 2021 Aug;154(1):35-40. doi: 10.1007/s11060-021-03796-6. Epub 2021 Jul 02. PMID: 34213706; PMCID: PMC8367919.
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J Neurooncol. 2021 Aug;154(1):35-40. doi: 10.1007/s11060-021-03796-6. Epub 2021 Jul 02.

The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients.

Journal of neuro-oncology

Peter Taule-Sivertsen, Ove Bruland, Aril Løge Håvik, Eirik Bratland, Morten Lund-Johansen, Per Morten Knappskog

Affiliations

  1. Department of Clinical Science, University of Bergen, Bergen, Norway.
  2. Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
  3. Department of Neurosurgery, Haukeland University Hospital, Bergen, Norway.
  4. Department of Clinical Science, University of Bergen, Bergen, Norway. [email protected].
  5. Department of Neurosurgery, Haukeland University Hospital, Bergen, Norway. [email protected].

PMID: 34213706 PMCID: PMC8367919 DOI: 10.1007/s11060-021-03796-6

Abstract

INTRODUCTION: Vestibular schwannoma (VS) is a benign intracranial tumor in which the underlying genetics is largely uncertain, apart from mutations in the tumor suppressor gene NF2. Alternative tumorigenic mechanisms have been proposed, including a recurrent in-frame fusion transcript of the HTRA1 and SH3PXD2A genes. The gene product of the SH3PXD2A-HTRA1 fusion has been shown to promote proliferation, invasion and resistance to cell death in vitro and tumor growth in vivo. The aim of this study was to replicate the findings and to investigate the frequency of this fusion gene in another cohort of vestibular schwannoma patients.

METHODS: The SH3PXD2A-HTRA1 transcript was synthesized in vitro using PCR and used as a positive control to assess the sensitivity of a real-time PCR assay. This real-time PCR assay was used to search for the presence of the fusion transcript in 121 Norwegian sporadic VS patients.

RESULTS: The real-time PCR assay showed a high sensitivity and was able to detect as low as ~ 5 copies of the fusion transcript. Out of the 121 investigated tumors, only 1 harbored the SH3PXD2A-HTRA1 fusion.

CONCLUSION: Even though the SH3PXD2A-HTRA1 fusion has been shown to be a driver of tumorigenesis, our results suggest that it is a rare event in our VS patients. Further investigation is warranted in order to elucidate whether our results represent an extreme, and if the fusion is present also in other neoplasms.

© 2021. The Author(s).

Keywords: Driver mutation; Gene fusion; Genetics; Neurosurgery; Tumorigenesis; Vestibular schwannoma

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