Clinical challenges of cancer predisposition syndromes with pediatric central nervous system tumors: a single-center study.
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INTRODUCTION: Recent developments in genetic testing have demonstrated that cancer predisposition syndrome (CPS) is present in approximately 15% of pediatric central nervous system (CNS) tumors; however, the optimal eligibility and timing of germline genetic testing in these patients have not been determined yet. METHODS: We retrospectively examined the clinical and genetic characteristics of pediatric CNS tumor patients diagnosed with CPS at Saitama Children's Medical Center between December 2016 and December 2022. RESULTS: Among approximately 83 pediatric CNS tumor patients at our institution, 12 (14.5%) were diagnosed with CPS. Only 2 patients had a family history of cancer. A total of 6 patients were identified with CPS before developing a tumor, including 4 with neurofibromatosis type 1, one with 22q11.2 deletion syndrome, and one with von Hippel-Lindau disease. The remaining 6 patients were identified as having CPS only after the development of tumors in 2 with Li-Fraumeni syndrome, one with familial adenomatous polyposis, one with Cowden disease, one with rhabdoid tumor predisposition syndrome, and one with Gorlin syndrome. Cancer gene panel testing discovered germline mutations in 4 patients. Notably, one patient with a lateral ventricle tumor was provisionally diagnosed with choroid plexus carcinoma following the finding of a TP53 germline mutation by liquid biopsy. Another patient with 22q11.2 deletion syndrome developed pineoblastoma, with confirmed biallelic inactivation of DGCR8. CONCLUSIONS: A subset of CPS in pediatric CNS tumors was challenging to diagnose before tumor development. These findings highlight the need for refined genetic screening criteria to enhance CPS diagnosis and management.