Imaging Characteristics of DICER1-Mutant Primary Intracranial Sarcoma: A Systematic Review and Meta-Analysis
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Purpose
DICER1-mutant primary intracranial sarcoma (PIS-DICER1) is a rare, recently defined high-grade intracranial tumor. This systematic review and meta-analysis aimed to comprehensively investigate its imaging characteristics to improve preoperative diagnostic accuracy and facilitate differential diagnosis.
Methods
A systematic literature search was conducted in PubMed and Web of Science for studies published up to December 31, 2025. Original studies with pathologically and molecularly confirmed PIS-DICER1 and detailed imaging data were included. Imaging features, including tumor location, margin definition, meningeal contact, intratumoral hemorrhage, enhancement pattern, cystic components, peritumoral edema, and advanced imaging findings (SWI, DWI, MRS, PWI), were extracted and analyzed. Pooled proportions with 95% confidence intervals (CIs) were calculated using a random-effects model.
Results
Twenty-four studies comprising 110 patients with detailed imaging data were included. The pooled mean age was 18.6 years (95% CI: 15.2-22.0), with a slight female predominance (53.3%, 96/180). Tumors were predominantly supratentorial (87%, 95% CI: 80%-93%). Substantial heterogeneity was observed across studies for location (I² = 78%). Intratumoral hemorrhage was observed in 85% (95% CI: 78%-91%). Contrast-enhanced MRI demonstrated heterogeneous enhancement in all cases (100%, 95% CI: 96%-100%). Due to sparse data, advanced MRI features could not be quantitatively synthesized, underscoring a critical knowledge gap.
Conclusion
PIS-DICER1 exhibits imaging features including supratentorial location, intratumoral hemorrhage, heterogeneous enhancement, well-defined margins, and meningeal involvement. These features, particularly in children and young adults with hemorrhagic supratentorial masses, should prompt differential diagnosis. Definitive diagnosis requires molecular confirmation, but recognition of these characteristics facilitates diagnosis and preoperative planning.
