Endocrine Abstracts

We describe a 52-year-old woman, with acromegaly, clival chondroid chordoma, meningioma and lung carcinoid. There was no family history of MEN-1. She was diagnosed as acromegaly in 2000. Radiological evaluation (MRI) revealed pituitary tumor, however, another infiltration of scull base was detected which invaded sphenoidal and ethmoidal sinuses, lamina cribroza and bilateral orbit walls. Pituitary tumor was completely removed and the reduction of extra-sellar mass was performed. Hystopathological and immunohistochemical analysis confirmed somatotroph pituitary adenoma and chondroid chordoma. After surgery, she almost normalized IGF-I levels (288 ng/mL) while GH remained unsuppressible during oGTT. In 2001 the second surgery was performed, para- and infra-sellar mass was reduced and pathohystology confirmed diagnosis of chondroid chordoma. In 2004 irradiation therapy gave no results regarding regression of scull base tumor, but IGF-I (113 ng/mL) and GH suppressibility normalized one year later. Atypycal bronchial carcinoid from the left lung was extirpated the same year and meningeoma arising from the falx cerebri was detected on MRI. Until now, the residual chordoma showed no further progression. On ¹¹¹Indium-labelled octreotid scintigraphy performed after lung operation, only meningeoma was detected. Even six years after the initial diagnosis there are no sings of primary hyperparathyroidism.

Possible mechanisms explaining MEN 1 phenotype with negative genetic result: the patient might have sporadic MEN 1 syndrome caused by double independent somatic events or to have germline mosaicism that has to be confirmed by genetic analyses of various tissues. Additionaly we have to exclude large deletion in MEN 1 gene.