Comprehensive genomic profiling from C‐CAT database unveiled over 80% presence of oncogenic drivers in anaplastic thyroid carcinoma including BRAF, RAS family, NF1, and FGFR1
Authors' conclusion
Comprehensive genomic analysis of ATC in Japan revealed distinct molecular subgroups, highlighting the importance of BRAF V600E mutations, particularly V600E, as potential therapeutic targets and suggest the relevance of tailor-made therapeutic strategies based on genomic profiling.
Study context
- Population
- Anaplastic thyroid carcinoma (ATC) cases with comprehensive genomic profiling data, C-CAT, Japan267 AACR-GENIE validation
- Participants
- 102 cases
- Outcome
- Oncogenic driver mutations (BRAF, RAS and other)
Methodological detailscomprehensive genomic profiling, external validation in AACR-GENIE data
- Comprehensive genomic profiling
- External validation in AACR-GENIE data
Main finding
As reported in the abstract
BRAF, RAS and other driver mutations
83 cases
81.2%
Prevalence of BRAF V600E mutations
60%
Observational data: associations, not effects.
Further findings
Clinical variables and overall survival by molecular group
- No significant differences in clinical variables and overall survival
- Analysis considering left-side amputation suggested poorer prognosis with RAS mutations
BRAF/RAS wild-type subgroup
- FGFR1 and NF1 identified as driver mutations, with accumulation of copy number variations and less TERT promoter mutations
- Molecular subgrouping also supported by AACR-GENIE data
Original publication
Comprehensive genomic profiling from C‐CAT database unveiled over 80% presence of oncogenic drivers in anaplastic thyroid carcinoma including BRAF, RAS family, NF1, and FGFR1. Clin Endocrinol (Oxf). Published 9 June 2024. doi:10.
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