Artikel
Occurrence of germline AIP mutations in a series of surgically treated sporadic pituitary tumors
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Autoren
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Isabelle Ribeiro-Pais
- Interdiciplinary Endocrinology, Pituitary Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany
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D. Evans
- Interdiciplinary Endocrinology, Pituitary Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany
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Till Burkhardt
- Interdiciplinary Endocrinology, Pituitary Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany
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Z. Rohani
- Interdiciplinary Endocrinology, Pituitary Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany
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Jens Aberle
- Interdiciplinary Endocrinology, Pituitary Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany
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Jörg Flitsch
- Interdiciplinary Endocrinology, Pituitary Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany
| Veröffentlicht: | 21. Mai 2013 |
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Gliederung
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Objective: In most patients the tumorgenesis of pituitary adenomas remains unclear. In sporadic, as well as hereditary adenomas, different genetic and molecular causes have been described. Recently, the inactivating gene mutations of the aryl hydrocarbon receptor protein (AIP) have become the focus of research in familial inherited pituitary adenomas (FIPA). The goal of this study was to investigate the occurrence of mutations in AIP in a consecutive series of surgically treated sporadic pituitary tumors.
Method: DNA was isolated from the blood of 93 patients and investigated for germline mutations in the AIP gene. Thirty-eight patients were diagnosed with hormonally inactive adenomas (male/female ratio 1, average age 54 years), 24 with acromegaly (male/female ratio 1.4, average age 46 years), 14 patients suffered from Cushing’s disease (male/female ratio 1, average age 41 years), 6 with prolactinomas (all female, average age 36 years), 3 with TSHomas (male/female ratio 2, average age 42 years), and 8 patients suffered from non-adenomateous pathologies (male/female ratio 0.6, average age 41 years).
Results: We found 2 male patients with AIP mutations, a 16-year-old with TSHoma, and an 84-year-old with a hormonally inactive adenoma. The mutations were also found in the younger brother of the boy and a daughter of the 84-year-old men. Both gene carriers underwent examinations for pituitary disease including MRI with negative results.
Conclusions: Currently, genetic sampling for AIP mutations should be restricted to research purposes and patients with positive familial history.
