Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2012) 29 P780

ICEECE2012 Poster Presentations Endocrine tumours and neoplasia (112 abstracts)

The pilot study on clinical presentation of pituitary adenomas (Pa) in patients with multiple endocrine neoplasia type 1 (Men1) phenotype with and without Men1 mutation

L. Rostomyan 1, , M. Tichomirowa 1, , N. Kirdyankina 2 , N. Mokrysheva 2 , N. Molitvoslovova 2 , L. Dzeranova 2 , A. Tiulpakov 2 , L. Rozhinskaya 2 & A. Beckers 1


University of Mainz, Mainz, Germany.


MEN1 germline mutations are identified in 70% of the familial forms of MEN1 and about 10%of the sporadic cases. Little is known about clinical differences between MEN1 with and without identification of MEN1 germline mutation particularly in terms of PA characteristics.

Aim: To compare the clinical features of PA in MEN1 cases with and without germline MEN1 mutation and sporadic cases of PA. Patients and methods: Data were obtained in 39 patients: 22 with MEN1 mutation (Group-I) and 17 sharing MEN1 phenotype but tested negatively for MEN1 mutation (Group-II). All patients presented with PA and primary hyperparathyroidism (PHPT). The genetic diagnosis was performed by direct sequencing of MEN1 exons and intronic boundaries. In 17 MEN1-negative patients large deletions of MEN1 were excluded by MLPA and direct sequencing of CDKN1B gene did not reveal the presence of genetic mutations. Control group (Group-III) included 17 patients with sporadic PA and no evidence of other endocrine tumors (matched by type of secretion and follow-up period to those in Group-II).

Results: In Group-II PA as primary tumor site were more frequent than in Group-I (70% vs 51%, P=0.04). The distribution of the PA type was significantly different between Group-I and Group-II. In Group-II 52% had somatotropinomas, 17% prolactinomas, 17% nonfunctioning adenomas, 11% corticotropinomas. In contrast, in the Group-I 53% consisted prolactinomas and only one patient had acromegaly. The frequency of macroadenomas was not different in Group-I and Group-II (55% vs 59%; P=0.8), but was higher in Group-II patients than in Group-III (59% vs 44%, P=0.041). In secreting PA normalization of pituitary hypersecretion was not significantly different in Group-I and Group-II (50% vs 52%, P=0.48), whereas it was more frequent in Group-III than in Group-II (76% vs 52%, P=0.001). During the whole follow-up 81% patients in Group-I developed gastroenteropancreatic neuroendocrine tumors, whereas in the Group-II such tumors were identified in only 2 patients.

Conclusion: PA in MEN1-phenocopies have different clinical characteristics than those with germline MEN1 mutations. The pituitary tumorogenesis in these patients, especially in those with GH-producing PA and PHPT, might involve mechanisms others than either MEN1 or CDKN1B mutations.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

Volume 29

15th International & 14th European Congress of Endocrinology

European Society of Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches.