Parathyroidism-Jaw Tumors

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Tumors of the parathyroid glands frequently occur with a prevalence of 0.1-0.4% in the general population, increasing up to 4% of postmenopausal women [1]. Parathyroid tumors are often associated with PTH hypersecretion determining primary hyperparathyroidism (PHPT), which represents the third most common endocrine disease following diabetes and thyreopathies. In PHPT, PTH hypersecretion due to tumor parathyroid cell proliferation, induces hypercalcemia by increasing calcium mobilization from bone and calcium reabsorption from kidney. Most tumors of parathyroid glands are benign lesions, involving one or multiple parathyroid glands. Parathyroid benign tumors-related morbidity comes from PTH inappropriate and uncontrolled release.
Similarly to other human cancers, parathyroid carcinomas (PCas) display local vascular and tissue invasiveness as well as
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PCas can be diagnosed in 15% of patients affected with the Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome (OMIM#145001), harboring inactivating mutations of the HRPT2/CDC73 gene [reviewed in 2]. HPT-JT patients develop PCas or solitary, rarer multiple, cystic parathyroid adenomas. PCas have been occasionally reported also in patients affected with Multiple Endocrine Neoplasia type 1 syndrome (OMIM#131100), harboring inactivating mutations of MEN1 gene. MEN1 patients usually develop parathyroid benign hyperplasia [2]. Somatic inactivating mutations of the HRPT2/CDC73 and MEN1 genes occur also in sporadic PCa cases.
Most of clinical and molecular studies investigated parathyroid tumor series including both benign and malignant cases, often finding a consistent overlap of the clinical, genetic and epigenetic features between the two entities. Nonetheless, benign and malignant parathyroid lesions differ in genetic and epigenetic aspects. Here, we focused the attention on PCas characterizing their clinical, genetic and epigenetic

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