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<p>Simpson–Golabi–Behmel syndrome (SGBS) is an overgrowth syndrome associated with an increased risk of certain malignancies; however, gliomas have not previously been reported in patients with SGBS. Loss-of-function variants in glypican-3 (<i>GPC3</i>) represent the primary molecular mechanism underlying SGBS-related overgrowth and tumorigenesis, although their relationship with gliomas remains unclear. We report a case of an 18-year-old male who had been clinically diagnosed with Sotos syndrome in childhood. He presented with sudden impaired consciousness, and neuroimaging revealed a large tumor in the left occipitoparietal lobe, which was subsequently resected. Histopathological analysis demonstrated a pediatric-type diffuse hemispheric glioma, H3 G34-mutant (CNS WHO grade 4). Next-generation sequencing of peripheral blood DNA identified a germline hemizygous deletion encompassing exons 3–5 of&#xa0;<i>GPC3</i>, leading to a revised diagnosis of SGBS. To our knowledge, this is the first reported case of SGBS associated with a&#xa0;glioma. This case raises the possibility that&#xa0;<i>GPC3</i>&#xa0;alterations may contribute to gliomagenesis, including in H3 G34-mutant diffuse hemispheric glioma.</p>

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Diffuse hemispheric glioma, H3 G34-mutant, in Simpson–Golabi–Behmel syndrome: the first reported case

  • 期刊论文

  • 发表日期：

    2026年7月28日

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  • Hidefumi Amisaki,
  • Atsushi Kambe,
  • Hiroki Yoshioka,
  • Yuichiro Nagao,
  • Sadaharu Tabuchi,
  • Masamichi Kurosaki

摘要

Simpson–Golabi–Behmel syndrome (SGBS) is an overgrowth syndrome associated with an increased risk of certain malignancies; however, gliomas have not previously been reported in patients with SGBS. Loss-of-function variants in glypican-3 (GPC3) represent the primary molecular mechanism underlying SGBS-related overgrowth and tumorigenesis, although their relationship with gliomas remains unclear. We report a case of an 18-year-old male who had been clinically diagnosed with Sotos syndrome in childhood. He presented with sudden impaired consciousness, and neuroimaging revealed a large tumor in the left occipitoparietal lobe, which was subsequently resected. Histopathological analysis demonstrated a pediatric-type diffuse hemispheric glioma, H3 G34-mutant (CNS WHO grade 4). Next-generation sequencing of peripheral blood DNA identified a germline hemizygous deletion encompassing exons 3–5 of GPC3, leading to a revised diagnosis of SGBS. To our knowledge, this is the first reported case of SGBS associated with a glioma. This case raises the possibility that GPC3 alterations may contribute to gliomagenesis, including in H3 G34-mutant diffuse hemispheric glioma.