Abstract Background Cancer Predisposition Syndromes (CPS) are reported in up to 15% of pediatric patients with CNS tumors, with incidence approaching 50% in specific histologies (e.g., choroid plexus carcinoma in Li-Fraumeni Syndrome). Identifying CPS is critical, as it mandates adjustments to therapeutic strategies and initiation of lifelong cancer surveillance protocols. Methods A collaborative, hospital-spanning multidisciplinary team (MDT) initiative across the National Cancer Institute and two major Cairo-university hospitals was launched in February 2025. The aim was to establish an optimal, comprehensive management model for pediatric CPS patients, based on adopted international surveillance guidelines, to ensure sustained continuity of care and foster local scientific research. Results The MDT comprised 17 members from 8 core specialties (Pediatric-Oncology, Ophthalmology, Radiodiagnosis, Neurology, Psychiatry, Genetics, Endocrinology, and Surgery), which established structured referral pathways to ensure timely assessment and coordinated care. This framework enabled the introduction of whole-body MRI screening for NF1 patients—a new practice at our center—and formalized genetic counseling with families to enhance disease understanding. A total of 39 patients were reviewed (31 NF1, 5 Tuberous Sclerosis, and 3 constitutional Mismatch Repair Deficiency cMMRD). The MDT approach directly impacted the specialized co-management of 10 NF1 patients with optic pathway gliomas and 9 requiring treatment for plexiform neurofibromas. Critically, five asymptomatic siblings of NF1 patients were identified by routine screening recommendations and enrolled in the surveillance program, demonstrating a significant impact on early diagnosis, risk stratification, and timely intervention for this vulnerable population. Conclusion The successful establishment of this large-scale MDT provides a robust and essential model for optimizing the complex management and long-term surveillance of pediatric CNS-CPS patients. The ability to proactively diagnose asymptomatic relatives through family screening and implement advanced, center-specific imaging protocols, such as whole-body MRI, underscores the significant impact of this framework on enhancing patient outcomes and ensuring better continuity of care.
Elayadi et al. (Tue,) studied this question.