Sporadic Parathyroid Adenoma (nonfamilial parathyroid adenoma) - Gen CDKN1B.
Sporadic parathyroid adenoma is a benign one of the four parathyroid glands tumor. The parathyroid glands produce parathyroid hormone (PTH), which regulates the levels of calcium and phosphorus in the blood. This tumor, alters the parathyroid gland releases more so than PHT normal.El adenoma benign parathyroid accounts for 75% to 80% of cases of primary hyperparathyroidism. Overall, the parathyroid adenoma is not related to the manifestation of signs and symptoms, so they are usually detected following a blood test. When the hyperparathyroidism is associated with these tumors can cause bone problems, affecting calcium levels. As a result, bones can become brittle or brittle, cause pain or be more prone to fractures.
This process is due to mutations in the gene CDKN1B, located on the short arm of chromosome 12 (12p13.1-p12). This gene encodes the protein p27. This protein is found in cells and tissues throughout the body. Within cells, p27 protein is mainly localized in the nucleus, where it plays a critical role in controlling cell growth and division. In addition, it helps regulate the cell cycle. Specifically, p27 prevents cells from entering the cell cycle phase when copy DNA in preparation for cell division. By blocking cell cycle progression, p27 prevents cells from dividing too quickly or in the wrong moment. Based on this function, p27 is described as a tumor suppressor protein. Furthermore, p27 is probably also is involved in the control of cell differentiation.
Mutations in the gene CDKN1B, reduce the amount of functional p27 available to control cell division. As a result, the cells are more likely to divide uncontrollably and form a tumor.
Sporadic Parathyroid adenoma is not inherited, meaning that occur in people with no history of disease in your family.
Tests in IVAMI: in IVAMI perform detection of mutations associated with sporadic adenoma parathyroid, by complete PCR amplification of exons CDKN1B gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).