Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome.

The Journal of Clinical Endocrinology and Metabolism
Alexander O VortmeyerEdward H Oldfield

Abstract

McCune-Albright syndrome (MAS) is caused by sporadic mutations of the GNAS. Patients exhibit features of acromegaly. In most patients, GH-secreting pituitary adenomas have been held responsible for this presentation. However, surgical adenomectomy rarely eliminates excess GH production. The aim of this study was to elucidate pituitary pathology in patients with MAS and to explain the basis of failure of adenomectomy to eliminate GH hypersecretion. We conducted a case series at the National Institutes of Health. Interventions included medical therapy and transsphenoidal surgery. We studied clinical and imaging features and the histology and molecular features of the pituitary of four acromegalic MAS patients. We identified widespread and diffuse pituitary gland disease. The primary pathological changes were characterized by hyperplastic and neoplastic change, associated with overrepresentation of somatotroph cells in structurally intact tissue areas. Genetic analysis of multiple microdissected samples of any type of histological area consistently revealed identical GNAS mutations in individual patients. The only patient with remission after surgery received complete hypophysectomy in addition to removal of multiple GH-secreting ...Continue Reading

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Citations

Oct 25, 2012·The Journal of Clinical Endocrinology and Metabolism·Alison M BoyceMichael T Collins
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Methods Mentioned

BETA
PCR
biopsy

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