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 PDFSubcentimetric papillary thyroid carcinoma (SPTC) (papillary thyroid carcinoma with less than 10 mm in size) usually presents an excellent prognosis, with few aggressive reported cases. Given the globally increased incidence of SPTC, physicians are struggling with the need to identify prognostic factors to stratify SPTC. The aim was to compare clinicopathological variables and prognosis between clinically and incidentally diagnosed SPTC.
View Article and Find Full Text PDFEndocrinol Diabetes Metab Case Rep
October 2023
Summary: We report a 61-year-old male patient without personal history of thyroid carcinoma or radiation exposure. In 2011, he presented with a cervical mass whose biopsy diagnosed a papillary thyroid carcinoma (PTC) in a lymph node metastasis (LNM). Total thyroidectomy with lymphadenectomy of central and ipsilateral compartment was performed.
View Article and Find Full Text PDFIntroduction: Endocrine disrupting chemicals (EDCs) are exogenous substances recognised as relevant tumourigenic chemicals. Studies show that even EDCs which were long abolished are still contributing to the increasing incidence of neoplasia.
Aim: To investigate the association between human exposure to EDCs and the risk of endocrine-related tumours: breast, prostate, thyroid, uterus, testis, and ovary.
Papillary thyroid carcinoma (PTC) usually presents an excellent prognosis, but some patients present with aggressive metastatic disease. BRAF, RAS, and TERT promoter (TERTp) genes are altered in PTC, and their impact on patient outcomes remains controversial. We aimed to determine the role of genetic alterations in PTC patient outcomes (recurrent/persistent disease, structural disease, and disease-specific mortality (DSM)).
View Article and Find Full Text PDFHypertension (HT) is a prevalent disease, which origin frequently remains undetermined. Antihypertensive treatment (AHT) has been linked with erectile dysfunction (ED), mainly in middle-aged and older males. On the other side, some drugs used in AHT seem to be themselves associated with ED as a secondary effect.
View Article and Find Full Text PDFPapillary thyroid cancer (PTC) has an indolent nature and usually excellent prognosis. Some PTC clinicopathological features may contribute to the development of aggressive metastatic disease. In this work, we want to evaluate PTC clinicopathological features that are presurgical prognostic predictors of patients' outcomes and find which indicators are more adequate for tailoring surgical procedures and follow-up.
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