title: The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas.
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.
  
  
  CONCLUSIONS
  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.
authors: Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokyo, Japan.
authors: Takeo
authors: T
authors: Iwata
authors: Shozo
authors: S
authors: Yamada
authors: Noriko
authors: N
authors: Mizusawa
authors: Hossain Md
authors: HM
authors: Golam
authors: Toshiaki
authors: T
authors: Sano
authors: Katsuhiko
authors: K
authors: Yoshimoto
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D049912:Growth Hormone-Secreting Pituitary Adenoma / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010911:Pituitary Neoplasms / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C103265:aryl hydrocarbon receptor-interacting protein