Diffuse hemispheric glioma, H3 G34-mutant, in Simpson-Golabi-Behmel syndrome: the first reported case.
H, A., A, K., H, Y., Y, N., S, T., & M, K. (2026). Diffuse hemispheric glioma, H3 G34-mutant, in Simpson-Golabi-Behmel syndrome: the first reported case.. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosur. https://doi.org/10.1007/s00381-026-07417-3
H A, A K, H Y, Y N, S T, M K. Diffuse hemispheric glioma, H3 G34-mutant, in Simpson-Golabi-Behmel syndrome: the first reported case.. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosur. 2026; doi: 10.1007/s00381-026-07417-3
H A, A K, H Y, et al. Diffuse hemispheric glioma, H3 G34-mutant, in Simpson-Golabi-Behmel syndrome: the first reported case.[J]. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosur. 2026. DOI: 10.1007/s00381-026-07417-3.
@article{h2026,
author = {Amisaki H and Kambe A and Yoshioka H and Nagao Y and Tabuchi S and Kurosaki M},
title = {Diffuse hemispheric glioma, H3 G34-mutant, in Simpson-Golabi-Behmel syndrome: the first reported case.},
journal = {Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosur},
year = {2026},
doi = {10.1007/s00381-026-07417-3},
note = {PMID: 42517967},
}
TY - JOUR AU - Amisaki H AU - Kambe A AU - Yoshioka H AU - Nagao Y AU - Tabuchi S AU - Kurosaki M TI - Diffuse hemispheric glioma, H3 G34-mutant, in Simpson-Golabi-Behmel syndrome: the first reported case. T2 - Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosur PY - 2026 DO - 10.1007/s00381-026-07417-3 AN - PMID:42517967 ER -
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.