Τίτλος:
Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Griniatsos, J.E.
Dimitriou, N.
Zilos, A.
Sakellariou, S.
Evangelou, K.
Kamakari, S.
Korkolopoulou, P.
Kaltsas, G.
Περιοδικό:
World Journal of Surgical Oncology
Λέξεις-κλειδιά:
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
DOI:
10.1186/1477-7819-9-6
