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

• Main Authors: Kamakari Smaragda, Evangelou Konstantinos, Sakellariou Stratigoula, Zilos Athanassios, Dimitriou Nikoletta, Griniatsos John E, Korkolopoulou Penelope, Kaltsas Gregory
• Format: Article
• Language: English
• Published: BMC 2011-01-01
• Series: World Journal of Surgical Oncology
• Online Access: http://www.wjso.com/content/9/1/6
• ISSN: 1477-7819

<p>Abstract</p> <p>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.</p>