Evidence map›Paper›PMID 42517967›Full record

ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2026

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

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

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In one paragraph

Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Hidefumi AmisakiDivision of Neurosurgery, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.
Atsushi KambeDivision of Neurosurgery, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan. kanimo@tottori-u.ac.jp.ORCID 0000-0002-7173-5915
Hiroki YoshiokaDivision of Neurosurgery, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.
Yuichiro NagaoDepartment of Neurosurgery, Tottori Prefectural Central Hospital, Tottori, Tottori, Japan.
Sadaharu TabuchiDepartment of Neurosurgery, Tottori Prefectural Central Hospital, Tottori, Tottori, Japan.
Masamichi KurosakiDivision of Neurosurgery, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Arrhythmias, CardiacBrain NeoplasmsGenetic Diseases, X-LinkedGigantismGliomaGlypicansIntellectual DisabilityMutationAdolescentHeart Defects, CongenitalHumansMaleGlypicansGPC3 protein, humanGliomagenesisGlypican-3Overgrowth syndromePediatric-type diffuse hemispheric gliomaSimpson–Golabi–Behmel syndrome

Identifiers

PMID42517967

What OpenQuestion holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.