High Prevalence of TBC1D12 5′UTR Mutations in Anaplastic Thyroid Cancer
Authors' conclusion
This preliminary study for the first time showed a high prevalence of TBC1D12 5'UTR mutations in ATC and indicated an association between TBC1D12 mutation and aggressive characteristics of PTC, which needs to be confirmed in large cohort studies.
Study context
- Population
- Patients with anaplastic thyroid cancer (ATC) (19 women, 9 men; median age 64 [IQR 55–71] years), 14 thyroid cancer cell lines and a normal thyroid cell line; Papillary thyroid cancer (PTC) from The Cancer Genome Atlas
- Participants
- 28 ATC patients
- Outcome
- Noncoding mutations in ATC
Methodological detailsSanger sequencing, TCGA thyroid cancer dataset analysis
- Sanger sequencing
- TCGA thyroid cancer dataset analysis
Main finding
As reported in the abstract
- TBC1D12 5'UTR hotspot mutations in ATCs
- 14 of 28 (50%)
- Any noncoding mutation (telomerase reverse transcriptase (TERT), SDHD, PLEKHS1 promoters, TBC1D12 5'UTR, GPR126 intron 6) in ATC
- 82.1% (23/28)
- TERT promoter mutations in ATC
- 22 (78.6%)
- GPR126 intron mutations in ATC
- 2 (7.1%)
- SDHD and PLEKHS1 promoter mutations in ATC
- 1 (3.6%)
- TBC1D12 5'UTR mutations in PTCs
- 7 of 492 (1.4%)
- TBC1D12 5'UTR mutations in cell lines
- 1 cell line derived from ATC
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| Association of TBC1D12 5'UTR mutation with clinicopathologic features in PTCTBC1D12 mutant vs Wild type · Older age at diagnosis: 60 vs. 46 | P = 0.003 |
| Association of TBC1D12 5'UTR mutation with clinicopathologic features in PTCTBC1D12 mutant vs Wild type · Pathological T3/T4 stage: 85.7% vs. 37.7% | P = 0.010 |
| Association of TBC1D12 5'UTR mutation with clinicopathologic features in PTCTBC1D12 mutant vs Wild type · Advanced tumor stages: 85.7% vs. 32.5% | P = 0.006 |
Original publication
High Prevalence of TBC1D12 5′UTR Mutations in Anaplastic Thyroid Cancer. Thyroid. Published 16 December 2024. doi:10.
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