Evidence map›Paper›PMID 40980447›Full record

ArticleNeuro-oncology advances

Revisiting pediatric HGGs and PNETs according to the WHO CNS5 criteria: A clinical and genomic retrospective analysis.

Joo Whan Kim, Seung Ah Choi, Sungyoung Lee, Hongseok Yun, Ji Hoon Phi, Sung-Hye Park, Seung-Ki Kim

Abstract read
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Article in Neuro-oncology advances. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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

What it found

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2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Joo Whan KimDepartment of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.ORCID https://orcid.org/0000-0003-2286-3301
Seung Ah ChoiDivision of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Sungyoung LeeHealthcare AI Research Institute, Seoul National University Hospital, Seoul, Republic of Korea.
Hongseok YunDepartment of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.ORCID https://orcid.org/0000-0003-2776-5954
Ji Hoon PhiNeuroscience Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.
Sung-Hye ParkDepartment of Pathology, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.ORCID https://orcid.org/0000-0002-8681-1597
Seung-Ki KimNeuroscience Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.ORCID https://orcid.org/0000-0002-0039-0083

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: The 2021 WHO Classification of Tumors of the Central Nervous System, 5th edition (WHO CNS5), introduced revised diagnostic criteria for pediatric brain tumors (BTs), redefining pediatric-type diffuse high-grade gliomas (pHGGs) into 4 subtypes: diffuse midline glioma, H3 K27-altered (DMG-H3K27), diffuse hemispheric glioma, H3 G34-mutant (DHG-H3G34), diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype (DpHGG-H3wt/IDHwt), and infant-type hemispheric glioma (IHG). This study revisits prior diagnoses of HGGs and primitive neuroectodermal tumors (PNETs) in children and incorporates next-generation sequencing (NGS) to classify tumors according to the revised criteria and analyze their clinicogenomic characteristics and outcomes. Methods: A retrospective review of pediatric patients diagnosed with glioblastoma (GBM), anaplastic astrocytoma, anaplastic oligoastrocytoma (AOA), gliomatosis cerebri, or PNET between 1997 and 2023 was conducted. Cases underwent pathology review, immunohistochemistry (IHC), and BT-targeted NGS for reclassification per WHO CNS5. An additional 20 patients diagnosed with pHGG via genetics-integrated diagnosis since 2020 were included. Clinical characteristics, genomic alterations, and outcomes were analyzed. Results: Among the 78 reviewed cases, 41 were reclassified as pHGGs. Conclusions: BT-targeted NGS facilitates the reclassification of pHGGs, revealing associations with CPS. Routine germline sequencing is warranted, and accurate molecular diagnosis enables a shift in treatment strategies tailored to specific pHGG subtypes.

Indexed as

cancer predisposition syndromediffuse high-grade gliomanext-generation sequencingoutcomepediatric

Identifiers

PMID40980447
PMCPMC12448711

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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.