Expanding the spectrum of dicer1-associated sarcomas
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · Jan 2020 · case series (3 cases) with comprehensive literature review
The authors report three pediatric sarcoma cases (ovarian with germline DICER1 mutation; metastatic peritoneal and primary intracranial with somatic DICER1 mutations) and performed a literature review of DICER1-associated sarcomas. The review (including 83 cases) shows a consistent heterogeneous histologic pattern similar to pleuropulmonary blastoma across sites. They recommend that this distinctive histology should prompt review of family history and DICER1 mutation testing to enable genetic counseling and imaging surveillance.
Reported effects: cases_reported 3, n=3 · literature_review_count 83, n=83
Key findings
- Reported three pediatric sarcomas associated with DICER1 mutations: a germline DICER1-associated ovarian sarcoma (5-year-old female), a somatic DICER1-associated metastatic peritoneal sarcoma (16-year-old female), and a somatic DICER1-associated primary intracranial sarcoma (4-year-old male).
- Comprehensive literature review including 83 DICER1-associated sarcomas demonstrates a consistent histologic pattern that mimics pleuropulmonary blastoma regardless of site.
- Characteristic histologic features include undifferentiated small round blue cells, poorly differentiated spindle cells, and large bizarre pleomorphic (anaplastic) cells, often with rhabdomyoblastic and/or chondroid differentiation and occasional bone/osteoid formation.
- The authors state that this heterogeneous histologic pattern should prompt detailed family-history review and DICER1 mutation analysis, facilitating genetic counseling, caregiver education, and imaging-based surveillance.
Expands the phenotypic spectrum of DICER1-associated tumors and highlights a characteristic histology that may indicate underlying DICER1 mutations.
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed · Full text