PTHP-12. Primary intracranial DICER-1 mutant sarcoma: a systematic review of existing literature from 2000 to 2024

BACKGROUND Primary central nervous system (CNS) sarcomas are rare brain neoplasms of mesenchymal origin. An emerging association has been identified between DICER1 mutationand a subtype of these tumors, known as “primary intracranial DICER1 mutant sarcoma (PIDMS)”. We aimed to review clinico-radiologiological presentation and management of PIDMS. Methodology The review was conducted following the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) guidelines. A comprehensive literature search was conducted using PubMed and Google Scholar to identify the existing studies published between 2000 and 2024. The studies discussing cases of biopsy-proven PIDMS were included. Animal studies, studies on metastatic and extracranial sarcomas data were excluded. The Joanna Briggs Institute (JBI) critical appraisal tools were used for the quality assessment of studies. RESULTS Eight studies comprising 10 patients met the inclusion criteria. Five of the cases (50%) occurred in the pediatric group, while the other five (50%) occurring in the adult age group with a mean age of 15.91 ± 17.71 years. Six patients (60%) were males, and the most common symptoms included headaches in 80% (8/10), followed by seizures in 50% (5/10) patients. The frontal and frontoparietal lobes were the most common tumor locations, occurring in three cases (30%) each. The molecular profiling in all 10 cases revealed DICER1 mutation. Gross total resection (GTR) was achieved in 50% (5/10) of the cases. The mean follow-up duration was 17.5 months, and seven patients underwent combined adjuvant treatment with radiotherapy and chemotherapy. Fifty percent patients (5/10) had stable disease after undergoing surgical resection and adjuvant therapy, and better outcomes were achieved with GTR and combination adjuvant treatment. CONCLUSION Primary Intracranial DICER1-Mutant Sarcomas have an aggressive clinical course and overlapping presenting features with other brain tumours. Extensive genetic profiling and large-scale clinical trials are needed to better understand the disease pathogenesis and optimize treatment protocols.