Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma
Authors' conclusion
Our analysis confirmed that 22qDEL occurs more frequently with RAS point mutations (50.4%), particularly HRAS (70.3%), compared with other PTC drivers (9.3%), supporting the conclusion that 22qDEL is unlikely to be a solitary driver of PTC but possibly an important co-factor in carcinogenesis, particularly in PTCs with RAS driver mutations.
Study context
- Population
- Primary papillary thyroid carcinoma (PTC) tumors from four published PTC genomic studies
- Participants
- 1,094 primary tumors
- Comparison
- PTC with 22qDEL vs without 22qDEL
- Outcome
- Frequency of 22qDEL by driver mutation
Methodological detailspooled analysis of four published PTC genomic studies
- Pooled analysis of four published PTC genomic studies
Pooled result
As reported in the abstract
- PTC with 22qDEL with arm-level loss of heterozygosity
- 86%
Further pooled results
Differential RNA expression, 22qDEL vs no 22qDEL
- Downregulation of most chromosome 22 genes in cases with 22qDEL
- Many differentially expressed genes from immune response and regulation pathways
Original publication
Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma. Eur Thyroid J. Published 7 January 2025. doi:10.
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