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Updated: Jun 28, 2026
07:18
Isolation and Characterization of Tumor-initiating Cells from Sarcoma Patient-derived Xenografts
Published on: June 13, 2019
Primary intracranial sarcoma, DICER1-mutant: 5 cases highlighting variable clinical and molecular features
Catherine K Gestrich1,2, Simmi Patel3, Seema M Shroff4
1Division of Pediatric Pathology, Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States.
Journal of Neuropathology and Experimental Neurology
|June 26, 2026
Summary
DICER1-mutant intracranial sarcoma is a rare central nervous system tumor. Methylation profiling and sequencing aid in diagnosing this entity, which affects both children and adults.
Area of Science:
- Neuro-oncology
- Genomic pathology
- Tumor classification
Background:
- Primary intracranial sarcoma, DICER1-mutant, is a rare tumor entity recently classified in the 2021 WHO CNS tumor classification.
- Characterized by specific cellular morphology, myogenic differentiation, and DICER1 mutations, these tumors predominantly affect pediatric populations and possess a unique methylation profile.
Purpose of the Study:
- To report additional cases of primary intracranial sarcoma, DICER1-mutant, expanding the understanding of its clinical and molecular spectrum.
- To highlight the diagnostic utility of methylation profiling and next-generation sequencing for this rare tumor type.
Main Methods:
- Analysis of 5 additional cases of primary intracranial sarcoma, DICER1-mutant, using methylation profiling and/or sequencing.
- Histopathological examination including immunohistochemistry for myogenic differentiation.
- Surgical resection and clinical follow-up.
Main Results:
- Cases identified across a wide age range (6-40 years), including infratentorial and adult presentations, and a case with a germline DICER1 mutation.
- Tumors exhibited spindle cells, fascicular growth, pleomorphism, eosinophilic globules, and myogenic differentiation.
- All cases harbored DICER1 mutations, with some showing concurrent DICER1 loss or KRAS/TP53 mutations.
- Clinical outcomes varied, with some patients achieving long-term disease-free survival.
Conclusions:
- Methylation profiling combined with next-generation sequencing is crucial for diagnosing primary intracranial sarcoma, DICER1-mutant.
- This study expands the known spectrum of this rare entity, including unusual locations and patient demographics.
- Further research is warranted to understand the biology and optimize treatment strategies.
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