PMID- 17014705
OWN - NLM
STAT- MEDLINE
DCOM- 20090922
LR  - 20220331
IS  - 1750-1172 (Electronic)
IS  - 1750-1172 (Linking)
VI  - 1
DP  - 2006 Oct 2
TI  - Multiple endocrine neoplasia type 1.
PG  - 38
AB  - Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant 
      hereditary cancer syndrome presented mostly by tumours of the parathyroids, 
      endocrine pancreas and anterior pituitary, and characterised by a very high 
      penetrance and an equal sex distribution. It occurs in approximately one in 
      30,000 individuals. Two different forms, sporadic and familial, have been 
      described. The sporadic form presents with two of the three principal 
      MEN1-related endocrine tumours (parathyroid adenomas, entero-pancreatic tumours 
      and pituitary tumours) within a single patient, while the familial form consists 
      of a MEN1 case with at least one first degree relative showing one of the 
      endocrine characterising tumours. Other endocrine and non-endocrine lesions, such 
      as adrenal cortical tumours, carcinoids of the bronchi, gastrointestinal tract 
      and thymus, lipomas, angiofibromas, collagenomas have been described. The 
      responsible gene, MEN1, maps on chromosome 11q13 and encodes a 610 aminoacid 
      nuclear protein, menin, with no sequence homology to other known human proteins. 
      MEN1 syndrome is caused by inactivating mutations of the MEN1 tumour suppressor 
      gene. This gene is probably involved in the regulation of several cell functions 
      such as DNA replication and repair and transcriptional machinery. The combination 
      of clinical and genetic investigations, together with the improving of molecular 
      genetics knowledge of the syndrome, helps in the clinical management of patients. 
      Treatment consists of surgery and/or drug therapy, often in association with 
      radiotherapy or chemotherapy. Currently, DNA testing allows the early 
      identification of germline mutations in asymptomatic gene carriers, to whom 
      routine surveillance (regular biochemical and/or radiological screenings to 
      detect the development of MEN1-associated tumours and lesions) is recommended.
FAU - Marini, Francesca
AU  - Marini F
AD  - Regional Center for Hereditary Endocrine Tumours, Department of Internal 
      Medicine, University of Florence, Florence, Italy. f.marini@dmi.unifi.it
FAU - Falchetti, Alberto
AU  - Falchetti A
FAU - Del Monte, Francesca
AU  - Del Monte F
FAU - Carbonell Sala, Silvia
AU  - Carbonell Sala S
FAU - Gozzini, Alessia
AU  - Gozzini A
FAU - Luzi, Ettore
AU  - Luzi E
FAU - Brandi, Maria Luisa
AU  - Brandi ML
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20061002
PL  - England
TA  - Orphanet J Rare Dis
JT  - Orphanet journal of rare diseases
JID - 101266602
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 37221-79-7 (Vasoactive Intestinal Peptide)
SB  - IM
MH  - Adolescent
MH  - Adrenal Cortex Neoplasms/diagnosis
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Angiofibroma/diagnosis
MH  - Carcinoid Tumor/diagnosis
MH  - Child
MH  - Facial Neoplasms/diagnosis
MH  - Female
MH  - Gastrinoma/diagnosis
MH  - Genetic Testing/methods
MH  - Humans
MH  - Insulinoma/diagnosis
MH  - Lipoma/diagnosis
MH  - Male
MH  - Meningioma/diagnosis
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/genetics/*therapy
MH  - Pancreatic Neoplasms/*diagnosis/genetics/metabolism/*therapy
MH  - Parathyroid Neoplasms/*diagnosis/genetics/*therapy
MH  - Pituitary Neoplasms/*diagnosis/genetics/*therapy
MH  - Prolactinoma/diagnosis
MH  - Proto-Oncogene Proteins/genetics
MH  - Thyroid Neoplasms/diagnosis
MH  - Vasoactive Intestinal Peptide/blood/metabolism
MH  - Young Adult
PMC - PMC1594566
EDAT- 2006/10/04 09:00
MHDA- 2006/10/04 09:01
PMCR- 2006/10/02
CRDT- 2006/10/04 09:00
PHST- 2006/09/12 00:00 [received]
PHST- 2006/10/02 00:00 [accepted]
PHST- 2006/10/04 09:00 [pubmed]
PHST- 2006/10/04 09:01 [medline]
PHST- 2006/10/04 09:00 [entrez]
PHST- 2006/10/02 00:00 [pmc-release]
AID - 1750-1172-1-38 [pii]
AID - 10.1186/1750-1172-1-38 [doi]
PST - epublish
SO  - Orphanet J Rare Dis. 2006 Oct 2;1:38. doi: 10.1186/1750-1172-1-38.