Endocrine Abstracts

It is established that somatic oncogene mutation (BRAF, NRAS, HRAS, KRAS) and gene translocations (RET/PTC, PAX8/PPAR-gamma) are associated with the development of thyroid cancer. Somatic single nucleotide polymorphisms were analyzed by LigthCycler melting method, while translocations were identified by real-time polymerase chain reaction technique. In 22 intraoperative thyroid tissue samples (11 pathologic and 11 normal). In tumorous sample 3 BRAF, 2 NRAS and one HRAS mutatio...

We report a family with a novel heterozygous mutation of the menin gene. This gene encodes a tumor suppressor protein which is responsible for multiple endocrine neoplasia type 1. The index female patient presented with symptoms of mild gastric hyperacidity and recurrent kidney stones. Family history revealed, that the daughter, as well as two sisters of the index patient had operations for primary hyperparathyroidism (PHPT). Clinical studies in the index patient showed elevat...

Background: It is well established that 1,25-dihydroxyvitamin D3 (1,25-D3) inhibits cell growth and induces apoptosis in numerous tumors. Increased expression of 1,25-D3 inactivating enzyme, (24-hydroxylase - CYP24A1), has been observed in numerous thyroid cancer cell lines after calcitriol treatment in vitro. We examined the expression of CYP24A1 as well as the activating 1-α-hydroxylase (CYP27B1) gene in human thyroid cancer tissue.Methods:...