Presentation and Outcomes of CNS Tumors Associated With Phakomatoses Syndromes From a Specialized Neuro-Oncology Practice in India.
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PURPOSE: Phakomatoses-associated primary central nervous system (CNS) tumors are therapeutically challenging due to young age of onset, multiple tumors, and prolonged morbidity from long-term survival. This study evaluated demographics, survival, and prognostic factors of patients with phakomatoses-associated CNS tumors treated at a specialized neuro-oncology service in India. MATERIALS AND METHODS: Consecutive patients diagnosed and managed between 2000 and 2022 were included in this retrospective study. Data were retrieved from electronic medical records. Treatment decisions were multidisciplinary and included maximal safe resection, radiation (RT), and systemic therapy as indicated. Kaplan-Meier survival analysis evaluated overall survival (OS) and progression-free survival (PFS). Univariate analyses used the log-rank test, and multivariate analyses the restricted mean survival time. RESULTS: A total of 121 patients were analysed: NF1 (61.2%), NF2 (23.1%), VHL (10.7%), and TSC (5.0%). For NF1, median follow-up was 36.5 months (95% CI: 1-254); 3-year PFS and OS were 76.4% (95% CI: 66.5-87.8) and 87.7% (95% CI: 80.1-96.1) respectively. On univariate analysis, NF1 high-grade glioma patients who did not receive RT had inferior outcomes, though not significant on RMST. For NF2, median follow-up was 40.5 months (95% CI: 1-199); 5-year PFS and OS were 37.3% (95% CI: 20.5-68.1) and 100% respectively. For VHL, median follow-up was 66.5 months (95% CI: 3-426); 5-year PFS and OS were 77.9% (95% CI: 54.6-100) and 100% respectively. For TSC, median follow-up was 71 months (95% CI: 1-228); 5-year PFS and OS were 75% (95% CI: 42.5-100) and 100% respectively. CONCLUSION: Phakomatoses-associated CNS tumors show promising outcomes with multimodality management. Further research into targeted multimodality treatment is warranted.