Publications by authors named "V Maximo"
Purpose: To perform a molecular profiling of the metastases from papillary thyroid carcinomas (PTCs) and poorly differentiated thyroid carcinomas (PDTCs).
Methods: We retrieved and analyzed the molecular and clinical features of 136 metastases from PTCs and 35 metastases from PDTCs subjected to targeted DNA sequencing, from cBioPortal. The clinicopathological data included the number and location of the metastases, and genomic data included mutations, translocations, copy number alterations and fraction of the genome altered (FGA).
In a family with Familial Non-Medullary Thyroid Carcinoma (FNMTC), our investigation using Whole-Exome Sequencing (WES) uncovered a novel germline mutation []. USP42 is known for regulating p53, cell cycle arrest, and apoptosis, and for being reported as overexpressed in breast and gastric cancer patients. Recently, a missense mutation was described in FNMTC, suggesting a potential involvement in thyroid cancer.
View Article and Find Full Text PDFCytosine modifications at the 5-carbon position play a critical role in gene expression regulation and have been implicated in cancer development. 5-Hydroxymethylcytosine (5hmC), arising from 5-methylcytosine (5-mC) oxidation, has shown promise as a potential malignancy marker due to its depletion in various human cancers. However, its significance in thyroid tumors remains underexplored, primarily due to limited data.
View Article and Find Full Text PDFArticle Synopsis
- * It found that anaplastic thyroid carcinomas had the highest tumor mutational burden, while Hürthle cell carcinomas displayed the largest genomic alterations.
- * Metastatic TCs show notable differences in genetic alterations compared to primary tumors, with specific mutations that could have implications for targeted therapies.
Article Synopsis
- The study examines the roles of cell adhesion molecules (CAMs) like ICAM-1, LFA-1, and L-selectin in thyroid cancer, investigating their potential as clinical diagnostic and prognostic markers.
- Researchers analyzed gene and protein expression in 275 patients (173 with malignant tumors and 102 with benign nodules) using RT-qPCR and immunohistochemistry.
- Key findings show that mRNA and protein levels of certain CAMs differ significantly between benign and malignant nodules, suggesting they could help identify malignancy, but no clear link to patient outcomes was established.