Pituitary Adenoma sporadic (nonfamilial pituitary adenoma) - Gen CDKN1B.
Sporadic pituitary adenoma is a disease characterized by the development of a tumor in the pituitary. The pituitary hormones that control important body functions and, when a tumor appears in this gland releasable excess one or more hormones, although not all tumors are producers gland hormones (nonfunctioning pituitary adenomas). Those who do usually produce some hormones in particular.
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 fast or at the wrong time. 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 pituitary 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 pituitary adenoma, 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).