Primary Intracranial DICER-1 Mutant Sarcoma: A Systematic Review of Existing Literature from 2000 to 2024
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Haseeb Mehmood Qadri1, Umair Ahmed2, Ali Azan Ahmed3
1Haseeb Mehmood Qadri, MBBS.
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.
Insights
Primary Intracranial DICER1-Mutant Sarcoma (PIDMS) is a rare brain tumor. This review analyzed 10 PIDMS cases, finding DICER1 mutations and highlighting the need for further research and clinical trials for better treatment protocols.
Area of Science:
- Neuro-oncology
- Rare Cancers
- Genomic Medicine
Background:
- Primary Intracranial DICER1-Mutant Sarcoma (PIDMS) is a rare brain tumor with limited clinical data.
- Understanding PIDMS presentation, treatment, and prognosis is crucial for patient outcomes.
Purpose of the Study:
- To systematically review and analyze existing literature on PIDMS.
- To focus on clinical presentation, imaging, genetic profiling, surgical treatment, and outcomes.
Main Methods:
- Systematic review following PRISMA guidelines.
- Searched PubMed and Google Scholar (2000-2024).
- Included biopsy-proven PIDMS cases; excluded non-human, metastatic, and extracranial sarcomas.
Main Results:
- Analyzed 8 studies with 10 PIDMS patients (5 pediatric, 5 adult).
- Common symptoms: headaches, seizures; common locations: frontal/frontoparietal lobes.
- All cases showed DICER1 mutation; 50% achieved Gross Total Resection (GTR); 50% had stable disease post-treatment.
Conclusions:
- PIDMS is an aggressive neoplasm with non-specific clinical features.
- Extensive genetic profiling and large-scale clinical trials are necessary.
- Optimized treatment protocols are needed for PIDMS management.
