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  • Title: The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas.
    Author: Iwata T, Yamada S, Mizusawa N, Golam HM, Sano T, Yoshimoto K.
    Journal: Clin Endocrinol (Oxf); 2007 Apr; 66(4):499-502. PubMed ID: 17371465.
    Abstract:
    BACKGROUND: Recently, germline mutations of aryl hydrocarbon receptor-interacting protein (AIP) gene located on 11q13 were identified in patients with pituitary adenoma predisposition. AIM/PATIENTS AND METHODS: We investigated the involvement of the AIP gene in one family with isolated familial somatotropinomas (IFS). To investigate the role of AIP in sporadic GH-secreting adenomas, we first analysed somatic mutations in 40 tumours. Second, DNA from corresponding leucocytes was analysed in tumours showing genetic changes of the AIP gene. RESULTS: Germline mutation of AIP was found in an IFS family. Bi-allelic inactivation of AIP by a combination of germline mutation and loss of heterozygosity were confirmed in two pituitary adenomas. Mutation analysis of the AIP gene in the 40 sporadic GH-secreting adenomas showed no mutations except for a missense mutation, suggesting that germline mutations in patients diagnosed with sporadic acromegaly or gigantism were rare. In a patient with gigantism, a missense mutation of V49M was identified at the germline level. CONCLUSION: Based on these results, we conclude that the loss of function of AIP contributes to IFS, but not for most Japanese sporadic GH-secreting adenomas.
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