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| Content Provider | frontiers |
|---|---|
| Author | Bellevicine, Claudio Ciarrocchi, Alessia Friedlaender, Alex Malapelle, Umberto de Biase, Dario |
| Abstract | Sanger sequencing proved to be the less sensitive technique, failing to detect TERT promoter mutations in 8% of samples that were positive by an allelic discrimination assay. Intriguingly, ddPCR has a higher sensitivity, detecting TERT promoter mutations in 20% of samples that were negative for TERT mutations using the other two techniques. Moreover, ddPCR would allow also the absolute quantification of copy number alterations, a distinct mechanism that results in TERT upregulation [9].The authors emphasize the use of ddPCR in the clinical practice of thyroid nodules, mainly in the context of aggressive and advanced thyroid carcinomas.Tumor mutation burden (TMB) is a quantitative measurement of the total number of somatic nonsynonymous mutations in the coding area of the tumor genome [10]. TMB is predictive of the activity of immune checkpoint inhibitor therapies in several cancers [11]. Guo and colleagues downloaded RNA-seq and DNA-seq datasets of PTC patients from The Cancer Genome Atlas (TCGA) database and determined the differentially expressed genes between the high and low TMB thyroid groups [Tumor Mutation Burden Predicts Relapse in Papillary Thyroid Carcinoma With Changes in Genes and Immune Microenvironment]. A higher TMB score was related to a worse prognosis and showed a higher level of oxidative phosphorylation genes. With regards to the immune microenvironment, in the high TMB group, the CD8 + T cells and M1 macrophages were significantly lower than that in th... |
| ISSN | 16642392 |
| DOI | 10.3389/fendo.2022.955185 |
| Volume Number | 13 |
| Journal | Frontiers in Endocrinology |
| Language | English |
| Publisher Date | 2022-06-29 |
| Access Restriction | Open |
| Subject Keyword | Thyroid cancer Next generating sequencing Immune System Molecular techniques Tumor mutation burden Thyroid pathologies |
| Content Type | Text |
| Resource Type | Article |
| Subject | Endocrinology, Diabetes and Metabolism |
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