PMID- 21266030
OWN - NLM
STAT- MEDLINE
DCOM- 20110526
LR  - 20211020
IS  - 1477-7819 (Electronic)
IS  - 1477-7819 (Linking)
VI  - 9
DP  - 2011 Jan 25
TI  - Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia 
      type 1 (MEN1) and a novel mutation in the MEN1 gene.
PG  - 6
LID - 10.1186/1477-7819-9-6 [doi]
AB  - 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.
FAU - Griniatsos, John E
AU  - Griniatsos JE
AD  - 1st Department of Surgery, Medical School, University of Athens, Athens, Greece. 
      johngriniatsos@yahoo.com
FAU - Dimitriou, Nikoletta
AU  - Dimitriou N
FAU - Zilos, Athanassios
AU  - Zilos A
FAU - Sakellariou, Stratigoula
AU  - Sakellariou S
FAU - Evangelou, Konstantinos
AU  - Evangelou K
FAU - Kamakari, Smaragda
AU  - Kamakari S
FAU - Korkolopoulou, Penelope
AU  - Korkolopoulou P
FAU - Kaltsas, Gregory
AU  - Kaltsas G
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20110125
PL  - England
TA  - World J Surg Oncol
JT  - World journal of surgical oncology
JID - 101170544
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adrenal Cortex Neoplasms/*genetics/pathology
MH  - Adrenocortical Carcinoma/*genetics/pathology
MH  - Adult
MH  - Exons/genetics
MH  - Female
MH  - Germ-Line Mutation/*genetics
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/pathology/surgery
MH  - Prognosis
MH  - Proto-Oncogene Proteins/*genetics
PMC - PMC3039620
EDAT- 2011/01/27 06:00
MHDA- 2011/05/27 06:00
PMCR- 2011/01/25
CRDT- 2011/01/27 06:00
PHST- 2010/03/22 00:00 [received]
PHST- 2011/01/25 00:00 [accepted]
PHST- 2011/01/27 06:00 [entrez]
PHST- 2011/01/27 06:00 [pubmed]
PHST- 2011/05/27 06:00 [medline]
PHST- 2011/01/25 00:00 [pmc-release]
AID - 1477-7819-9-6 [pii]
AID - 10.1186/1477-7819-9-6 [doi]
PST - epublish
SO  - World J Surg Oncol. 2011 Jan 25;9:6. doi: 10.1186/1477-7819-9-6.