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ARTICLE

Germline Predisposition in Pediatric Central Nervous System Tumors: Insights from a Multigene Panel Study

Meerim Park1, Seungman Park2, Ensel Oh3, Jongmun Choi4, Mi Mi Kwon1, Seog-Yun Park5, Jun Ah Lee1, Hyeon Jin Park1,*
1 Department of Pediatrics, Center for Pediatric Cancer, National Cancer Center, Goyang, Republic of Korea
2 Department of Laboratory Medicine, National Cancer Center, Goyang, Republic of Korea
3 Geninus Inc., BI Center, Seoul, Republic of Korea
4 NGS Research Center, Seegene Medical Foundation, Seoul, Republic of Korea
5 Department of Pathology, National Cancer Center, Goyang, Republic of Korea
* Corresponding Author: Hyeon Jin Park. Email: email
(This article belongs to the Special Issue: Advances in Pediatric and Adolescent Oncology: From Bench to Bedside)

Oncology Research https://doi.org/10.32604/or.2026.079120

Received 15 January 2026; Accepted 30 March 2026; Published online 17 April 2026

Abstract

Objectives: Germline variants in cancer predisposition genes have been increasingly recognized in pediatric cancers. However, their spectrum in East Asian children with central nervous system (CNS) tumors remains insufficiently defined. This study investigated the prevalence and clinical significance of pathogenic or likely pathogenic (P/LP) germline mutations in Korean children, adolescents, and young adults (AYAs) with CNS tumors. Methods: We performed targeted next-generation sequencing of 358 cancer-associated genes using peripheral blood DNA from 108 patients. Germline variants were classified according to ACMG/AMP guidelines and curated using ClinVar and relevant literature. Results: Among 108 patients, 17 (15.7%) carried P/LP germline variants. The median age at diagnosis was 7.7 years (range, 1.0–24.0), and 64.7% were male. P/LP variants were most frequent in other CNS tumors (4/11, 36.4%), including 2 glioneuronal tumors, 1 schwannoma, 1 atypical teratoid rhabdoid tumor (ATRT), and gliomas (9/32, 28.1%), followed by medulloblastomas (3/31, 9.7%). In gliomas, P/LP variants in MLH1, NF1, MUTYH, PALB2, PMS2, FANCM, and TP53 were observed, while medulloblastomas carried alterations in SUFU, BRIP1, and FANCI. SMARCB1 variant was found in ATRT. Among 25 patients with intracranial germ cell tumors, only a single case carried a P/LP germline variant, identified in FANCI. Conclusion: Germline P/LP mutations were identified in 15.7% of Korean children and AYAs with CNS tumors, most commonly in gliomas and other CNS tumors. Our findings highlight the molecular heterogeneity of germline predisposition in CNS tumors and emphasize the importance of germline testing for risk assessment and surveillance.

Keywords

Central nervous system (CNS) tumor; children, adolescents, and young adults (AYAs); germline variants; next-generation sequencing

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