PMID- 23334809
OWN - NLM
STAT- MEDLINE
DCOM- 20140902
LR  - 20211021
IS  - 1573-7403 (Electronic)
IS  - 1386-341X (Linking)
VI  - 17
IP  - 1
DP  - 2014 Feb
TI  - Frequency of multiple endocrine neoplasia type 1 in a group of patients with 
      pituitary adenoma: genetic study and familial screening.
PG  - 30-7
LID - 10.1007/s11102-013-0462-8 [doi]
AB  - The purpose of this study it was to evaluate the frequency of Multiple Endocrine 
      Neoplasia type 1 (MEN1) in patients with pituitary adenoma and to perform genetic 
      analysis and familial screening of those individuals afflicted with MEN1. 144 
      patients with pituitary adenoma at Botucatu Medical School, UNESP-Univ Estadual 
      Paulista, were assessed retrospectively for MEN1 during the years of 2005-2011. 
      The patients were evaluated for the presence of primary hyperparathyroidism (PHP) 
      and enteropancreatic tumors. Genetic analysis was performed for the individuals 
      with clinically diagnosed MEN1. Thirteen patients met the diagnostic criteria for 
      MEN1, but three individuals belong to the same family and they were considered as 
      a single MEN1 event, revealing 7.7 % frequency of MEN1 in this patient group. 
      Genetic analysis showed MEN1 mutations in four index cases: IVS4+1 G>A, IVS3-6 
      C>T, c.1547insC and a new D180A mutation. One patient did not agree to 
      participate in the genetic study and another one was referred for follow up in 
      other hospital. Only polymorphisms were found in the other individuals, one of 
      which was novel. We identified a high frequency of MEN1 in pituitary adenoma 
      patients. Since PHP is one of the most common MEN1 tumor and patients are mostly 
      asymptomatic, we suggest that all pituitary adenoma patients have their calcium 
      profile analyzed.
FAU - Nunes, V S
AU  - Nunes VS
AD  - Laboratory of Molecular Biology, Department of Internal Medicine, Botucatu 
      Medical School, UNESP, Univ Estadual Paulista, Botucatu, Brazil, 
      vsnunes@fmb.unesp.br.
FAU - Souza, G L
AU  - Souza GL
FAU - Perone, D
AU  - Perone D
FAU - Conde, S J
AU  - Conde SJ
FAU - Nogueira, C R
AU  - Nogueira CR
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Pituitary
JT  - Pituitary
JID - 9814578
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Adenoma/*genetics
MH  - Calcium/metabolism
MH  - Genetic Testing
MH  - Humans
MH  - Hyperparathyroidism, Primary/diagnosis/*genetics
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Pedigree
MH  - Pituitary Neoplasms/*genetics
MH  - Polymorphism, Genetic
MH  - Retrospective Studies
EDAT- 2013/01/22 06:00
MHDA- 2014/09/03 06:00
CRDT- 2013/01/22 06:00
PHST- 2013/01/22 06:00 [entrez]
PHST- 2013/01/22 06:00 [pubmed]
PHST- 2014/09/03 06:00 [medline]
AID - 10.1007/s11102-013-0462-8 [doi]
PST - ppublish
SO  - Pituitary. 2014 Feb;17(1):30-7. doi: 10.1007/s11102-013-0462-8.