PMID- 23435440
OWN - NLM
STAT- MEDLINE
DCOM- 20130809
LR  - 20151119
IS  - 0391-1977 (Print)
IS  - 0391-1977 (Linking)
VI  - 38
IP  - 1
DP  - 2013 Mar
TI  - Diagnosis and treatment of multiple endocrine neoplasia type 1 (MEN1).
PG  - 17-28
AB  - Multiple endocrine neoplasia type 1 (MEN1; formerly known as Wermer syndrome) is 
      a rare disorder characterized by the combined occurrence of two or more tumors 
      involving parathyroid, pancreatic islets and anterior pituitary glands; some 
      other tumors have also been described. In most cases it is inherited in an 
      autosomic dominant manner but it may occur sporadically. The MEN1 gene (MEN1) is 
      located on chromosome 11q13, it is composed of ten exons that encode a 610 amino 
      acid protein called menin. Menin, with no homology to any other known protein, 
      interacts with several different proteins and plays an important role in 
      regulation of cell growth, cell cycle, genome stability and synapse plasticity. 
      Familiar MEN1 has a high degree of penetrance with clinical or biochemical 
      manifestations of the disease in 80% and 98%, respectively, by the fifth decade. 
      Clinical manifestations are related to tumor localizations and their secretory 
      products. Hyperparathyroidism is the most common feature of MEN1 (95% of 
      patients), pancreatic islet tumors or pancreatic NET (neuroendocrine tumor) occur 
      in 40-70% and pituitary tumors in 30-40% of MEN 1 patients. In addition, other 
      tumors, such as adrenal cortical tumors, carcinoid tumors, lipomas, 
      angiofibromas, colagenomas and meningiomas may be present. Occurrence of de novo 
      mutations appear in 10% of all patients with MEN1. A correlation between genotype 
      and phenotype has not been found and, even more, combinations of these tumors may 
      be different in members of the same family. Untreated patients have a decreased 
      life expectancy, with a 50% probability of death by the age of 50 years and the 
      cause of death is mostly directly related to MEN1, being the most important 
      causes malignant pancreatic neuroendocrine tumors (NET) and thymic carcinoids. 
      Treatment for each type of endocrine tumor is generally similar as in non-MEN1 
      associated tumors, but results are less successful according to multiplicity of 
      tumors, higher metastatic disease, larger and more aggressive tumors and more 
      resistant to treatment. The prognosis might improve by preclinical tumor 
      diagnosis and appropriated treatment.
FAU - Gaztambide, S
AU  - Gaztambide S
AD  - Hospital Universitario Cruces - Ciberer-UPV-EHU, Barakaldo, Spain. 
      mariasonia.gaztambidesaenz@osakidetza.net
FAU - Vazquez, F
AU  - Vazquez F
FAU - Castano, L
AU  - Castano L
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Italy
TA  - Minerva Endocrinol
JT  - Minerva endocrinologica
JID - 8406505
RN  - 0 (Biomarkers)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Biomarkers/metabolism
MH  - Early Diagnosis
MH  - Exons
MH  - Genotype
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/epidemiology/genetics/therapy
MH  - Mutation
MH  - Pancreatic Neoplasms/*diagnosis/epidemiology/genetics/therapy
MH  - Parathyroid Neoplasms/*diagnosis/epidemiology/genetics/therapy
MH  - Phenotype
MH  - Pituitary Neoplasms/*diagnosis/epidemiology/genetics/therapy
MH  - Prevalence
MH  - Prognosis
MH  - Proto-Oncogene Proteins/genetics
MH  - Spain/epidemiology
EDAT- 2013/02/26 06:00
MHDA- 2013/08/10 06:00
CRDT- 2013/02/26 06:00
PHST- 2013/02/26 06:00 [entrez]
PHST- 2013/02/26 06:00 [pubmed]
PHST- 2013/08/10 06:00 [medline]
AID - R07132003 [pii]
PST - ppublish
SO  - Minerva Endocrinol. 2013 Mar;38(1):17-28.