Cell· 2014Q1
Integrated Genomic Characterization of Papillary Thyroid Carcinoma
- 3,093citations
- Q1SCImago
- 2014year
Short summary
Genomic analysis of 496 papillary thyroid carcinomas (PTCs) identified new driver alterations (EIF1AX, PPM1D, CHEK2, and gene fusions), reducing the proportion of PTC cases with unknown drivers from 25% to 3.5%.
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Key points
- Genomic landscape of 496 papillary thyroid carcinomas (PTCs) analyzed.
- Identified EIF1AX, PPM1D, CHEK2, and gene fusions as new PTC driver alterations.
- Reduced the fraction of PTC cases with unknown oncogenic drivers from 25% to 3.5%.
- Different driver groups exhibit distinct pathologies, signaling, and differentiation characteristics.
- Proposed reclassification of thyroid cancers into molecular subtypes.
AI-generated from the title and abstract; the full text is not read.
Abstract
Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Here, we describe the genomic landscape of 496 PTCs. We observed a low frequency of somatic alterations (relative to other carcinomas) and extended the set of known PTC driver alterations to include EIF1AX, PPM1D, and CHEK2 and diverse gene fusions. These discoveries reduced the fraction of PTC cases with unknown oncogenic driver from 25% to 3.5%. Combined analyses of genomic variants, gene expression, and methylation demonstrated that different driver groups lead to different pathologies with distinct signaling and differentiation characteristics. Similarly, we identified distinct molecular subgroups of BRAF-mutant tumors, and multidimensional analyses highlighted a potential involvement of oncomiRs in less-differentiated subgroups. Our results propose a reclassification of thyroid cancers into molecular subtypes that better reflect their underlying signaling and differentiation properties, which has the potential to improve their pathological classification and better inform the management of the disease.
The authors' abstract, as published at the source. Cell, 2014 · DOI ↗
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Field: Endocrinology, Diabetes and Metabolism
Endocrinology, Diabetes and MetabolismMedicine