FIHP is a clinically defined entity, based on the absence of expression of the extra-parathyroid manifestations that characterize other familial HPT syndromes. FIHP is genetically heterogeneous, and can be caused by variant expressions of germline mutations in MEN1, HRPT2, CASR, and probably other genes. One of the puzzling aspects of FIHP is the absence of [...]
Continue reading " Parathyroid tumorigenesis: Familial isolated hyperparathyroidism "
Germline gain-of-function mutations in the RET protooncogene cause MEN 2A. The RET protein is a receptor tyrosine kinase that normally transduces growth and differentiation signals in developing tissues including those derived from the neural crest. This makes the RET gene, which encodes a tyrosine kinase receptor, a candidate gene involved in nonfamilial hyperparathyroidism. There are [...]
Continue reading " Parathyroid tumorigenesis: Multiple endocrine neoplasia type 2 A "
Genetic studies on inherited tumor susceptibility disorders have increased our knowledge of tumorigenesis. PHPT is found in several disorders with an autosomal dominance inheritance, such as multiple endocrine neoplasia type 1 (MEN 1) and 2A (MEN2A), hereditary hyperparathyroidism-jaw tumor (HPT-JT) syndrome, familial isolated hyperparathyroidism (FIHP), familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). The [...]
Continue reading " Parathyroid tumorigenesis: Familial parathyroid diseases "
