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Primary intracranial sarcomas in Peruvian children: a high-incidence clinicopathological series from a National
Sandro Casavilca-Zambrano1,2,3, Arie Perry4, Jenny Bonifacio-Mundaca3,5,6
1Faculty of Health Sciences, University of Huanuco, Huanuco 10001, Peru.
Insights
Primary intracranial sarcomas with DICER1 alterations are aggressive pediatric brain tumors with poor prognosis. This Peruvian study highlights their high incidence and need for further research.
Area of Science:
- Neuro-oncology
- Pediatric oncology
- Molecular pathology
Background:
- Primary intracranial sarcomas are aggressive CNS neoplasms.
- DICER1-altered tumors represent a distinct molecular subtype.
- These sarcomas have a high incidence in Peru's pediatric population.
Purpose of the Study:
- To describe clinicopathological features and outcomes of DICER1-associated primary intracranial sarcomas in Peruvian children.
- To analyze a large national cohort for insights into this rare malignancy.
Main Methods:
- Retrospective analysis of 112 pediatric cases (2011-2025) from the National Cancer Institute of Peru.
- Integration of histopathology, immunohistochemistry, and clinical outcome data.
Main Results:
- Median age was 7 years; tumors were predominantly supratentorial.
- Histology showed spindle, pleomorphic, and round cell patterns with hyaline globules.
- ATRX loss, p53 overexpression, and high proliferation were common; median survival was 25 months.
- No tested markers (ATRX, p53, Ki-67) showed prognostic significance.
Conclusions:
- This is the largest pediatric series of DICER1-mutant intracranial sarcomas from a low- and middle-income country.
- Findings confirm poor prognosis and biological heterogeneity.
- Urgent need for integrated molecular and epidemiological research to improve outcomes.
Background/Objectives:
Primary intracranial sarcoma is a recognized entity within the World Health Organization Classification of Tumours of the Central Nervous System (CNS) and comprises an aggressive subgroup of mesenchymal, non-meningothelial neoplasms. Among these, tumours associated with DICER1 alterations have recently been characterized as a distinct molecular subset. Although globally rare, primary intracranial sarcomas consistent with the DICER1-associated spectrum demonstrate an unusually high incidence in Peru, where they represent the second most common high-grade pediatric CNS malignancy after medulloblastoma. This study aimed to describe their clinicopathological features and outcomes in a large national cohort.
Methods:
We retrospectively analyzed 112 pediatric cases diagnosed between 2011 and 2025 at the National Cancer Institute of Peru, integrating histopathology, immunohistochemistry and clinical outcomes.
Results:
The median age was 7 years, and most tumours were supratentorial, predominantly affecting the frontal and parietal lobes. Histologically, they exhibited spindle, pleomorphic and undifferentiated round cell patterns, with frequent hyaline globules and aberrant vasculature. Immunohistochemistry showed recurrent ATRX loss, p53 overexpression and high proliferative indices, whereas myogenic markers were variably expressed. Median overall survival was 25 months, with 12-, 36- and 60-month survival rates of 65.7%, 45.9% and 44.0%, respectively. None of the tested markers (ATRX, p53 and Ki-67) demonstrated prognostic significance.
Conclusion:
This is the largest pediatric series of DICER1-mutant primary intracranial sarcomas reported from a low- and middle-income country. The findings confirm their poor prognosis and biological heterogeneity, highlighting the urgent need for integrated molecular and epidemiological research to identify risk factors and improve patient outcomes.
