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DICER1 Syndrome and Tumor Pathology: An Updated Review for Diagnostic Practice
Maria C Riascos1, Vania Nosé2,3
1Department of Pathology, Mass General Brigham.
Advances in Anatomic Pathology
|June 9, 2026
Summary
DICER1 syndrome is a genetic disorder leading to various tumors due to DICER1 gene variants. This review aids pathologists in diagnosing and managing this rare condition.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- DICER1 syndrome is an autosomal dominant disorder.
- Caused by pathogenic variants in the microRNA-processing gene DICER1.
- Associated with a wide spectrum of pediatric and adult neoplasms.
Purpose of the Study:
- To provide an updated review of DICER1 syndrome.
- To synthesize current knowledge on DICER1 biology and associated tumors.
- To equip pathologists with diagnostic tools for detection and management.
Main Methods:
- Literature review and synthesis of current knowledge.
- Analysis of clinicopathologic features of associated tumors.
- Development of a diagnostic algorithm for pathologists.
Main Results:
- The phenotypic spectrum of DICER1 syndrome is broad, including various benign and malignant neoplasms.
- Sentinel lesions and specific tumor types can indicate DICER1 syndrome.
- Diagnostic challenges exist, necessitating a structured approach.
Conclusions:
- Early recognition and diagnosis of DICER1 syndrome are crucial for patient management.
- An integrated approach combining molecular insights and clinical practice is essential.
- This review provides valuable resources for pathologists and multidisciplinary teams.
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