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DICER1 somatic mutations strongly impair miRNA processing even in benign thyroid lesions
Anello Marcello Poma1, Vincenzo Condello1, Maria Denaro1
1Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy.
Oncotarget
|April 9, 2019
Summary
Somatic DICER1 mutations in thyroid lesions cause significant microRNA (miRNA) deregulation, particularly a loss of 5p miRNAs. This miRNA imbalance, though not specific to malignancy, suggests a role in thyroid cancer progression.
Area of Science:
- Molecular biology
- Genetics
- Oncology
Background:
- MicroRNA (miRNA) processing alterations are key events in various cancers, including thyroid cancer.
- Somatic DICER1 mutations are found in both benign and malignant follicular-patterned thyroid lesions.
Purpose of the Study:
- To investigate the impact of miRNA processing gene alterations on the miRNA profile in thyroid tumors.
- To analyze the mutational status and miRNA deregulation in DICER1-mutant lesions.
Main Methods:
- Studied 19 follicular adenomas (FAs) and 22 follicular variant papillary thyroid carcinomas (FVPTCs).
- Investigated mutational status of DICER1, DROSHA, TARBP2, DGCR8 in tumor and normal tissues.
- Evaluated miRNA profiles and mRNA expression of key miRNA processing genes.
Main Results:
- Identified two DICER1 mutations in the RNase IIIb domain in FAs.
- Observed significant loss of 5p miRNAs in DICER1-mutant lesions.
- Found fifteen miRNAs deregulated in DICER1-mutant lesions, impacting cancer-related pathways like Hippo and p53.
Conclusions:
- DICER1 mutations in the RNase IIIb domain are not exclusive to malignant thyroid tumors.
- The resulting miRNA imbalance, especially 5p miRNA loss, is significant and associated with malignant transformation.
- Further research is needed to clarify the malignancy risk and evolution of DICER1-mutant lesions for clinical application.
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