作者: CA Stratakis , MA Tichomirowa , S Boikos , MF Azevedo , M Lodish
DOI: 10.1111/J.1399-0004.2010.01406.X
关键词:
摘要: The prevalence of germline mutations in MEN1, AIP, PRKAR1A, CDKN1B and CDKN2CI is unknown among pediatric patients with pituitary adenomas (PA). In this study, we screened children PA for these genes; somatic GNAS were also studied a limited number growth hormone (GH) or prolactin (PRL)-secreting PA. We 74 6 either isolated Cushing disease (CD) GH- PRL-secreting PA, respectively. four CD, GH/PRL-secreting tumors who had some syndromic features. There was one AIP mutation (p.Lys103Arg) CD patients. Two MEN1 that occurred recurrent difficult-to-treat found CD. three (p.Gln307ProfsX104, p.Pro114fsX, p.Lys241X) additional patient positive family history. no the CDKN1B, CDKN2C genes. Thus, gene are frequent but significantly rarer CD; PRKAR1A not present outside Carney complex.