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Background <p>Brain intraparenchymal schwannoma is a rare clinical entity, generally curable with adequate resection.</p> Methods and results <p>We describe a case in a male patient first presenting at 19 months of age, the youngest reported age for this lesion. It also appears to be the first case connected to a germline <i>TSC2</i> p.1510del mutation in a patient with autism-like symptoms. Although tuberous sclerosis is generally not associated with increased risk of schwannoma, mTORC1 activity, which is inhibited by intact TSC1/TSC2 complex, is involved in schwannoma progression. This patient’s tumor also harbored a <i>CHD7</i>::<i>VGLL3</i> fusion consistent with its genomic DNA methylation classification of CNS Schwannoma, VGLL-fused. The Hippo pathway, mTORC1, and VGLL3 all negatively regulate the YAP1/TEAD cotranscriptional complex. We hypothesize that this schwannoma may have arisen because of increased VGLL3 functional activity from the <i>CHD7</i>::<i>VGLL3</i> fusion and, perhaps, increased mTORC1 activity due to <i>TSC2</i> mutation, and their combined effects on the balance between YAP1/TEAD- and VGLL3/TEAD-mediated transcriptional programs.</p> Conclusions <p>We present a frontal lobe intra-axial parenchymal schwannoma containing a <i>CHD7</i>::<i>VGLL3</i> gene fusion presenting in a 19 month-old male, the youngest patient yet reported for this lesion.</p>

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Frontal lobe intra-axial schwannoma harboring a CHD7::VGLL3 fusion and heterozygous TSC2 p.F1510del mutation in a young child

  • 期刊论文

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  • 发表日期：

    2025年1月10日

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  • Anthony V. Nguyen,
  • Blaine H. Berger,
  • Zied Abdullaev,
  • Samuel Gearhart,
  • Eduardo Castro-Echeverry,
  • Kenneth Aldape,
  • Eric Trumble,
  • Norman L. Lehman

摘要

Background

Brain intraparenchymal schwannoma is a rare clinical entity, generally curable with adequate resection.

Methods and results

We describe a case in a male patient first presenting at 19 months of age, the youngest reported age for this lesion. It also appears to be the first case connected to a germline TSC2 p.1510del mutation in a patient with autism-like symptoms. Although tuberous sclerosis is generally not associated with increased risk of schwannoma, mTORC1 activity, which is inhibited by intact TSC1/TSC2 complex, is involved in schwannoma progression. This patient’s tumor also harbored a CHD7::VGLL3 fusion consistent with its genomic DNA methylation classification of CNS Schwannoma, VGLL-fused. The Hippo pathway, mTORC1, and VGLL3 all negatively regulate the YAP1/TEAD cotranscriptional complex. We hypothesize that this schwannoma may have arisen because of increased VGLL3 functional activity from the CHD7::VGLL3 fusion and, perhaps, increased mTORC1 activity due to TSC2 mutation, and their combined effects on the balance between YAP1/TEAD- and VGLL3/TEAD-mediated transcriptional programs.

Conclusions

We present a frontal lobe intra-axial parenchymal schwannoma containing a CHD7::VGLL3 gene fusion presenting in a 19 month-old male, the youngest patient yet reported for this lesion.