Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene.
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.
1st Department of Surgery, Medical School, University of Athens, Athens, Greece. johngriniatsos@yahoo.com
John E
JE
Griniatsos
Nikoletta
N
Dimitriou
Athanassios
A
Zilos
Stratigoula
S
Sakellariou
Konstantinos
K
Evangelou
Smaragda
S
Kamakari
Penelope
P
Korkolopoulou
Gregory
G
Kaltsas
D000306:Adrenal Cortex Neoplasms / Q000235:genetics* / Q000473:pathology; D018268:Adrenocortical Carcinoma / Q000235:genetics* / Q000473:pathology; D000328:Adult; D005091:Exons / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics*
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins
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