TY - JOUR
TI - Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene
AU - Griniatsos, J.E.
AU - Dimitriou, N.
AU - Zilos, A.
AU - Sakellariou, S.
AU - Evangelou, K.
AU - Kamakari, S.
AU - Korkolopoulou, P.
AU - Kaltsas, G.
JO - World Journal of Surgical Oncology
PY - 2011
VL - 9
TODO - null
SP - null
PB - 
SN - 1477-7819
TODO - 10.1186/1477-7819-9-6
TODO - dopamine receptor stimulating agent;  insulin glargine;  MEN1 protein, human;  oncoprotein, abdominal obesity;  adrenal cortex carcinoma;  adrenalectomy;  adult;  article;  case report;  dexamethasone suppression test;  diabetes mellitus;  exon;  female;  gene mutation;  hemangiofibroma;  human;  hypophysis adenoma;  lipid storage;  menstrual irregularity;  moon face;  multiple endocrine neoplasia;  nephrectomy;  nuclear magnetic resonance imaging;  pancreas carcinoma;  parathyroid hyperplasia;  prolactinoma;  adrenal cortex carcinoma;  adrenal cortex tumor;  genetics;  multiple endocrine neoplasia;  mutation;  pathology;  prognosis, Adrenal Cortex Neoplasms;  Adrenocortical Carcinoma;  Adult;  Exons;  Female;  Germ-Line Mutation;  Humans;  Multiple Endocrine Neoplasia Type 1;  Prognosis;  Proto-Oncogene Proteins
TODO - 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. © 2011 Griniatsos et al; licensee BioMed Central Ltd.
ER -