Prevalence, Molecular Landscape, and Clinical Impact of DICER1 and DGCR8 Mutated Follicular-Patterned Thyroid Nodules
Authors' conclusion
DICER1 and DGCR8 hotspot mutations are rare in unselected cohorts of FTs, and mutated cases exhibit a specific miRNA profile. Although DGCR8 mutations may coexist with established RAS gene alterations, FTs with DICER1 variants were devoid of other driver gene events.
Study context
- Population
- Follicular-patterned thyroid tumors (FTs) from 2 institutions
- Participants
- 440 FTs
- Outcome
- Frequency of DICER1 and DGCR8 hotspot mutations in FTs
Methodological details2 institutions, Sanger sequencing, whole-exome sequencing, micro-RNA (miRNA) expression profiling, The Cancer Genome Atlas (TCGA) validation
- 2 institutions
- Sanger sequencing
- Whole-exome sequencing
- miRNA expression profiling
- TCGA validation
Main finding
As reported in the abstract
Hotspot mutation prevalence
DICER1 hotspot mutations
14
3.2%
DGCR8 hotspot mutations
4
1%
Constitutional variant in cases with normal tissue available
0
Observational data: associations, not effects.
Further findings
Co-occurring driver events
- DGCR8-mutant cases also harboring oncogenic RAS mutations
- 2
- Whole-exome sequencing: no additional driver gene events in DICER1/DGCR8-positive cases
miRNA expression
- Unique pattern of dysregulated miRNAs in DICER1/DGCR8-mutant vs wild-type lesions
- DICER1-mutant cases: remarkable reduction of 5' arm miRNAs, corroborated in TCGA cohort
Original publication
Prevalence, Molecular Landscape, and Clinical Impact of DICER1 and DGCR8 Mutated Follicular-Patterned Thyroid Nodules. J Clin Endocrinol Metab. Published 22 January 2024. doi:10.
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