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Research ArticleExperimental Studies
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Pathogenic Variants and Allele Loss of the NF2 and LZTR1 Gene in Sporadic Vestibular Schwannoma

MARIA BREUN, TIM SCHULZ, CAMELIA M. MONORANU, RALF-INGO ERNESTUS, CORDULA MATTHIES, MARIO LÖHR and LAN KLUWE
In Vivo May 2025, 39 (3) 1251-1261; DOI: https://doi.org/10.21873/invivo.13929
MARIA BREUN
1Department of Neurosurgery, University Hospital of Würzburg, Würzburg, Germany;
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  • For correspondence: breun_m{at}ukw.de
TIM SCHULZ
1Department of Neurosurgery, University Hospital of Würzburg, Würzburg, Germany;
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CAMELIA M. MONORANU
2Department of Neuropathology, Institute of Pathology, University Hospital of Würzburg, Würzburg, Germany;
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RALF-INGO ERNESTUS
1Department of Neurosurgery, University Hospital of Würzburg, Würzburg, Germany;
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CORDULA MATTHIES
1Department of Neurosurgery, University Hospital of Würzburg, Würzburg, Germany;
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MARIO LÖHR
1Department of Neurosurgery, University Hospital of Würzburg, Würzburg, Germany;
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LAN KLUWE
3Department of Neurology, University Hospital Hamburg-Eppendorf, Hamburg-Eppendorf, Germany
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    Figure 1.

    Phenotype correlation with the number of pathogenetic variants (PV). A) Facial function according to House & Brackmann (HB) Grade; B) Auditory function according Hannover Classification; the difference between 1 PV and 2 PV was statistically significant (p=0.015). C) Tumor growth dynamic (1: rapid; 2: slow); D) Tumor extension according Hannover Classification.

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    Figure 2.

    MLPA of tumor #41 reveals an allele loss of the NF2 gene, which appeared heterozygotic.

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In Vivo: 39 (3)
In Vivo
Vol. 39, Issue 3
May-June 2025
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Pathogenic Variants and Allele Loss of the NF2 and LZTR1 Gene in Sporadic Vestibular Schwannoma
MARIA BREUN, TIM SCHULZ, CAMELIA M. MONORANU, RALF-INGO ERNESTUS, CORDULA MATTHIES, MARIO LÖHR, LAN KLUWE
In Vivo May 2025, 39 (3) 1251-1261; DOI: 10.21873/invivo.13929

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Pathogenic Variants and Allele Loss of the NF2 and LZTR1 Gene in Sporadic Vestibular Schwannoma
MARIA BREUN, TIM SCHULZ, CAMELIA M. MONORANU, RALF-INGO ERNESTUS, CORDULA MATTHIES, MARIO LÖHR, LAN KLUWE
In Vivo May 2025, 39 (3) 1251-1261; DOI: 10.21873/invivo.13929
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Keywords

  • Sporadic vestibular schwannoma
  • next generation sequencing (NGS)
  • pathogenic variants
  • genotype
  • phenotype
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