A high prevalence of the BRAF(V600E) somatic mutation was recently reported in several series of papillary thyroid carcinomas (PTC). This mutation appears to be particularly prevalent in PTC with a predominantly papillary architecture. Another BRAF mutation (K601E) was detected in a follicular adenoma and in some cases of the follicular variant of PTC. The few studies on record provided controversial data on the relationship between the occurrence of BRAF mutations and clinicopathologic parameters such as gender, age and tumour staging. In an attempt to clarify such controversies we decided to enlarge our previous series to 315 tumours or tumour-like lesions diagnosed in 280 patients, including a thorough analysis of several clinicopathologic features. The BRAF(V600E) mutation was exclusively detected in PTC with a papillary or mixed follicular/papillary architecture both of the conventional type (46%) and of other histotypes, such as microcarcinoma (43%), Warthin-like PTC (75%) and oncocytic variant of PTC (55%). The BRAF(K601E) mutation was detected in four of the 54 cases of the follicular variant of PTC (7%). The mean age of patients with conventional PTC harbouring BRAF(V600E) (46.7 years) was significantly higher (P<0.0001) than that of patients with conventional PTC without BRAF(V600E) (29.5 years). The BRAF (BRAF(V600E)) mutated PTC did not exhibit signs of higher aggressiveness (size, vascular invasion, extra-thyroid extension and nodal metastasis) and were in fact less often multicentric than PTC without the mutation.
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http://dx.doi.org/10.1007/s00428-005-1236-0 | DOI Listing |
Microorganisms
November 2024
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Papillary thyroid cancer (PTC) is one of the fastest-growing cancers worldwide, lacking established causal factors or validated early diagnostics. Human endogenous retroviruses (HERVs), comprising 8% of human genomes, have potential as PTC biomarkers due to their comparably high baseline expression in healthy thyroid tissues, indicating homeostatic roles. However, HERV regions are often overlooked in genome-wide association studies because of their highly repetitive nature, low sequence coverage, and decreased sequencing quality.
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December 2024
Endocrine Surgery Unit, General Surgery Department, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain.
: Thyroglobulin (Tg) is the specific tumor marker for epithelial thyroid cancer. It holds significant value in the postoperative period, and somehow, the goal of surgery in papillary thyroid cancer (PTC) undergoing total thyroidectomy is to achieve undetectable levels of postoperative thyroglobulin (uTg). : This is a retrospective single-center study in which first basal Tg values were evaluated post-surgery in PTC patients undergoing total thyroidectomy.
View Article and Find Full Text PDFAm J Hum Genet
January 2025
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Each human genome has approximately 5 million DNA variants. Even for complete loss-of-function variants causing inherited, monogenic diseases, current understanding based on gene-specific molecular function does not adequately predict variability observed between people with identical mutations or fluctuating disease trajectories. We present a parallel paradigm for loss-of-function variants based on broader consequences to the cell when aberrant polypeptide chains of amino acids are translated from mutant RNA to generate mutated proteins.
View Article and Find Full Text PDFSci Rep
January 2025
Teaching and Research Management Section, Guiyang Public Health Clinical Center, No. 6, Daying Road, Yunyan District, Guiyang, 550004, China.
The latest World Health Organization Classification of Tumors, Fifth Edition, recognizes the invasive encapsulated follicular variant of papillary thyroid carcinoma (IEFVPTC) as a distinct malignant entity rather than a subtype of papillary thyroid carcinoma (PTC). This reclassification highlights the need to explore potential prognostic differences between IEFVPTC and classic PTC. This study utilized the Surveillance, Epidemiology, and End Results (SEER) database to compare prognoses of patients diagnosed with IEFVPTC and classic PTC between 2004 and 2019.
View Article and Find Full Text PDFLancet Neurol
January 2025
Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden.
Pathogenic variants in the superoxide dismutase 1 (SOD1) gene were the first identified genetic cause of amyotrophic lateral sclerosis (ALS), in 1993. This discovery enabled the development of transgenic rodent models for studying the biology of SOD1 ALS. The understanding that SOD1 ALS is driven by a toxic gain-of-function mutation has led to therapeutic strategies that aim to lower concentrations of SOD1 protein, an endeavour that has been complicated by the phenotypic heterogeneity of SOD1 ALS.
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