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Published in: World Journal of Surgical Oncology 1/2011

Open Access 01-12-2011 | Case report

Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene

Authors: John E Griniatsos, Nikoletta Dimitriou, Athanassios Zilos, Stratigoula Sakellariou, Konstantinos Evangelou, Smaragda Kamakari, Penelope Korkolopoulou, Gregory Kaltsas

Published in: World Journal of Surgical Oncology | Issue 1/2011

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Abstract

The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%. In the literature data only unilateral development of ACCs in MEN1 patients has been reported. We report a 31 years-old female MEN1-patient, in whom hyperplasia of the parathyroid glands, prolactinoma, non functioning pancreatic endocrine carcinoma and functioning bilateral adrenal carcinomas were diagnosed. Interestingly, a not previously described in the literature data, novel germline mutation (p.E45V) in exon 2 of MEN1 gene, was detected. The association of exon 2 mutation of the MEN1 gene with bilateral adrenal carcinomas in MEN1 syndrome, should be further investigated.
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Metadata
Title
Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene
Authors
John E Griniatsos
Nikoletta Dimitriou
Athanassios Zilos
Stratigoula Sakellariou
Konstantinos Evangelou
Smaragda Kamakari
Penelope Korkolopoulou
Gregory Kaltsas
Publication date
01-12-2011
Publisher
BioMed Central
Published in
World Journal of Surgical Oncology / Issue 1/2011
Electronic ISSN: 1477-7819
DOI
https://doi.org/10.1186/1477-7819-9-6

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