PMID- 16444356
OWN - NLM
STAT- MEDLINE
DCOM- 20061024
LR  - 20190917
IS  - 0004-2730 (Print)
IS  - 0004-2730 (Linking)
VI  - 49
IP  - 5
DP  - 2005 Oct
TI  - [Multiple endocrine neoplasia type 1 (MEN 1): clinical, biochemical and molecular 
      diagnosis and treatment of the associated disturbances].
PG  - 735-46
AB  - Multiple endocrine neoplasia (MEN) syndromes include types 1 (MEN 1) and 2 (MEN 
      2), von Hippel-Lindau syndrome, neurofibromatosis type 1 and Carney complex. 
      These are complex genetic syndromes caused by activation or inactivation of 
      different types of genes known to be involved in the regulation of cell 
      proliferation. In this review we will discuss the clinical manifestations and 
      management of the MEN 1 syndrome as well as the genetic screening of potential 
      MEN 1 gene carriers. MEN 1 is a hereditary syndrome, transmitted in an autosomic 
      dominant fashion and caused by an inactivating mutation of the MEN 1 gene, 
      characterized by the development of primary hyperparathyroidism, islet cell 
      tumors and pituitary adenomas. In addition, these patients can present with 
      cutaneous manifestations such as angiofibromas and collagenomas, and can develop 
      other neoplastic manifestations including carcinoids, thyroid tumors, adrenal 
      adenomas, lipomas, pheochromocytomas and meningiomas. The MEN 1 gene encodes a 
      peptide which is a tumor suppressor gene called menin. Several studies have 
      demonstrated its importance in regulation of cell proliferation and have 
      confirmed its role in the pathogenesis of the MEN 1 syndrome. The discovery of 
      the MEN 1 gene and the genetic analysis of MEN 1 patients have resulted in 
      earlier diagnosis and treatment of asymptomatic carriers which can potentially 
      result in a longer survival of these patients. Further investigation of the 
      function and signaling pathways of the menin protein will hopefully offer 
      therapeutic alternatives to patients with malignant progression of MEN 1-related 
      tumors and also result in improved survival.
FAU - Hoff, Ana Oliveira
AU  - Hoff AO
AD  - MD Anderson Cancer Center, Houston, Texas, USA.
FAU - Hauache, Omar Magid
AU  - Hauache OM
LA  - por
PT  - English Abstract
PT  - Journal Article
PT  - Review
TT  - Neoplasia endocrina multipla tipo 1: diagnostico clinico, laboratorial e 
      molecular e tratamento das doencas associadas.
DEP - 20060123
PL  - Brazil
TA  - Arq Bras Endocrinol Metabol
JT  - Arquivos brasileiros de endocrinologia e metabologia
JID - 0403437
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adenoma, Islet Cell/diagnosis/genetics/therapy
MH  - Genetic Testing
MH  - Humans
MH  - Hyperparathyroidism, Primary/diagnosis/genetics/therapy
MH  - *Multiple Endocrine Neoplasia Type 1/diagnosis/genetics/therapy
MH  - Mutation/*genetics
MH  - Pancreatic Neoplasms/diagnosis/genetics/therapy
MH  - Pituitary Neoplasms/diagnosis/genetics/therapy
MH  - Proto-Oncogene Proteins/*genetics
RF  - 84
EDAT- 2006/01/31 09:00
MHDA- 2006/10/25 09:00
CRDT- 2006/01/31 09:00
PHST- 2006/01/31 09:00 [pubmed]
PHST- 2006/10/25 09:00 [medline]
PHST- 2006/01/31 09:00 [entrez]
AID - S0004-27302005000500014 [pii]
AID - 10.1590/s0004-27302005000500014 [doi]
PST - ppublish
SO  - Arq Bras Endocrinol Metabol. 2005 Oct;49(5):735-46. doi: 
      10.1590/s0004-27302005000500014. Epub 2006 Jan 23.