Germline Predisposition in Pediatric Central Nervous System Tumors: Insights from a Multigene Panel Study
Meerim Park1, Seungman Park2, Ensel Oh3
1Department of Pediatrics, Center for Pediatric Cancer, National Cancer Center, Goyang, Republic of Korea.
Oncology Research
|June 3, 2026
Summary
Pathogenic germline mutations were found in 15.7% of Korean pediatric and young adult patients with central nervous system (CNS) tumors, most often in gliomas. This highlights the need for germline testing in CNS tumor diagnosis and surveillance.
Area of Science:
- Genetics
- Pediatric Oncology
- Neuro-oncology
Background:
- Germline variants in cancer predisposition genes are increasingly recognized in pediatric cancers.
- The spectrum of these variants in East Asian children with central nervous system (CNS) tumors requires further definition.
Purpose of the Study:
- To investigate 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.
Main Methods:
- Targeted next-generation sequencing of 358 cancer-associated genes was performed on peripheral blood DNA from 108 patients.
- Germline variants were classified using ACMG/AMP guidelines and curated with ClinVar and literature.
Main Results:
- 17 out of 108 patients (15.7%) carried P/LP germline variants.
- P/LP variants were most frequent in other CNS tumors (36.4%) and gliomas (28.1%), followed by medulloblastomas (9.7%).
- Specific genes identified included MLH1, NF1, MUTYH, PALB2, PMS2, FANCM, TP53 in gliomas; SUFU, BRIP1, FANCI in medulloblastomas; and SMARCB1 in ATRT.
Conclusions:
- Germline P/LP mutations occur in 15.7% of Korean pediatric and AYA patients with CNS tumors, particularly gliomas and other CNS tumors.
- These findings underscore the molecular heterogeneity of germline predisposition in CNS tumors.
- Germline testing is crucial for risk assessment and surveillance in this population.
Keywords:
Central nervous system (CNS) tumorchildren, adolescents, and young adults (AYAs)germline variantsnext-generation sequencingMore Related Videos
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