Abstract
BACKGROUND AND OBJECTIVE: Primary Intracranial DICER1-Mutant Sarcoma (PIDMS) is a rare brain tumor with limited data available on its clinical presentation, treatment, and prognosis. This review aimed to analyze the literature on PIDMS, focusing on its presenting features, imaging findings, genetic profiling, surgical treatment, and outcomes. METHODOLOGY: Our systematic review was conducted following the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) guidelines. PubMed and Google Scholar were searched to identify the studies published between 2000 and 2024. Only the studies with biopsy-proven PIDMS cases were included. Studies on animals, metastatic, and extracranial sarcomas were excluded. The Joanna Briggs Institute (JBI) critical appraisal tools were used for the quality assessment. RESULTS: Eight studies comprising 10 patients met the inclusion criteria. Five of the cases (50%) occurred in the pediatric group, while five (50%) in the adult age group (mean age: 15.91 ± 17.71 years). Six patients (60%) were males, and the most common symptoms included headaches and seizures. The frontal and frontoparietal lobes were the most common tumor locations, and the molecular profiling in all 10 cases revealed DICER1 mutation. Gross total resection (GTR) was achieved in 50% of the cases. The mean follow-up duration was 17.5 months, and seven patients underwent combined adjuvant treatment with radiotherapy and chemotherapy. Five patients (50%) had stable disease after undergoing surgical resection and adjuvant therapy. CONCLUSION: PIDMS is an aggressive neoplasm with non-specific clinical features overlapping with other brain tumours. Extensive genetic profiling and large-scale clinical trials are needed to develop optimized treatment protocols.