ECE2011 Poster Presentations Pituitary (111 abstracts)
Prevalence of germline mutations of AIP gene in sporadic aggressive somatotropinomas
M Puig-Domingo 1, , J Oriola 2, , I Halperin 2, , M Mora 2, , G Diaz-Soto 1, , M J Perales 1, , C Alvarez-Escolá 3, , T Lucas-Morante 3, , Ignacio Bernabeu 3, & Mónica Marazuela 3,
1Hospital Universitari Germans Trias i Pujol, Badalona, Spain; 2Hospital Clínic, Barcelona, Spain; 3Hospital Clínico, Valladolid, Spain; 4Hospital Universitario La Paz, Madrid, Spain; 5Hospital Universitario Puerta de Hierro, Madrid, Spain; 6Complejo Hospitalario Universitario, Santiago de Compostela, Spain; 7Hospital La Princesa, Madrid, Spain.
Most kindreds of familial isolated pituitary adenomas (FIPA) with mutated AIP develop somatotropinomas, characterized by an aggressive clinical phenotype including early age at diagnosis, large tumours and frequent invasiveness. In non-family cases, the prevalence of AIP mutations in pituitary adenomas is lower than 10%. There is no information of AIP prevalence in isolated somatotropinomas characterized by poor response to conventional treatment.
Aim: To investigate the prevalence of AIP mutations in non-family cases of somatotropinomas with poor response to conventional treatment.
Patients and methods: A total of 50 patients (22 males/28 females, age 52±15) and 16 controls were included in this study performed at six University Hospitals in Spain. None of them had family history of pituitary adenomas or other endocrine tumours. All patients failed to respond to conventional treatment including surgery and somatostatin analogs. Some of them received adjuvant radiotherapy and most cases required pegvisomant treatment to control residual GH hypersecretion. AIP gene analysis was performed by using standardized PCR protocol (Science 312 1228–1230), in which the coding regions of exons 1, 2, 3, 4, 5 y 6 were amplified. Possible deletions/duplications were studied using MLPA.
Results: One out of 50 cases showed a not previously described mutation for the AIP gene, consisting in c.26G>A (p.Arg9Gln). The patient was a female with clinical diagnosis of acromegaly performed at the age of 20 years, and bearing a macroadenoma.
Conclusion: AIP germline mutations show a low prevalence in non-family acromegalic patients with tumours resistant to conventional treatment.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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