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Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update Karhu A; Aaltonen LAHum Mol Genet 2007[Apr]; 16 Spec No 1 (ä): R73-9Pituitary tumors are common intracranial neoplasms. Although histologically benign, pituitary tumors can cause significant morbidity due to their critical location, expanding size and oversecretion of pituitary hormone expression. The majority of pituitary tumors are sporadic, but some arise as a component of hereditary syndromes. Our understanding of these genetic conditions has expanded rapidly due to the identification of new predisposing genes. Four specific genes have been identified that predispose to hereditary pituitary neoplasia; MEN1, PRKAR1A, CDKN1B and AIP, of which CDKN1B and AIP have been identified only recently. These genes underlie multiple endocrine neoplasia type 1, Carney complex, MEN1-like phenotype and pituitary adenoma predisposition, respectively. The present study review the current state of knowledge regarding the genes associated to inherited pituitary neoplasia, with a particular focus on the novel pituitary adenoma predisposing genes, CDKN1B and AIP.|Adenoma/genetics/metabolism[MESH]|Cyclic AMP-Dependent Protein Kinase RIalpha Subunit[MESH]|Cyclic AMP-Dependent Protein Kinases/genetics[MESH]|Cyclin-Dependent Kinase Inhibitor p27[MESH]|Genetic Predisposition to Disease[MESH]|Germ-Line Mutation[MESH]|Humans[MESH]|Intracellular Signaling Peptides and Proteins/*genetics[MESH]|Mutation[MESH]|Pituitary Neoplasms/*genetics/metabolism[MESH]|Proteins/*genetics[MESH]|Proto-Oncogene Proteins/*genetics[MESH] |
