PMID- 11524904
OWN - NLM
STAT- MEDLINE
DCOM- 20020103
LR  - 20221212
IS  - 1424-7860 (Print)
IS  - 0036-7672 (Linking)
VI  - 131
IP  - 25-26
DP  - 2001 Jun 30
TI  - 10 Swiss kindreds with multiple endocrine neoplasia type 1: assessment of 
      screening methods.
PG  - 381-6
AB  - PRINCIPLES: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant 
      disease characterised by the combined occurrence of tumours of the parathyroid 
      glands, the enteropancreatic neuroendocrine system and the anterior pituitary 
      gland. The genetic defect has been mapped to the long arm of chromosome 11q13, 
      and the MEN1-gene was recently identified by positional cloning. Genetic 
      screening for MEN1 germline mutations allows the identification of gene carriers 
      in affected kindreds. Biochemical and radiological screening for MEN1 tumours 
      allows an earlier diagnosis and treatment, and, thus may reduce morbidity and 
      mortality. Since there is no consensus about the frequency and the extent of the 
      necessary screening investigations, evaluation of proposed screening programs is 
      of importance. METHODS: The aims of our study were to identify the MEN1-gene 
      mutations and to detect the gene-carriers in 10 Swiss MEN1 families, as well as 
      to assess biochemical and radiological screening methods. The study included 45 
      members from 10 MEN1 families. RESULTS: Every family had a different type of 
      MEN1-gene mutation. Thirty out of 45 family members were gene mutation carriers. 
      Twenty-two MEN1-gene carriers had typical MEN1 tumours: parathyroid, 
      enteropancreatic and pituitary tumours were found in 21, 14 and 1 patients, 
      respectively. Applying a defined screening program the following manifestations 
      in asymptomatic MEN1-gene carriers were detected: 9 primary hyperparathyroidism, 
      3 nonfunctioning pancreatic tumours, 1 gastrinoma, 1 nonfunctioning microadenoma 
      of the pituitary and 1 macronodular adrenal hyperplasia. CONCLUSIONS: The genetic 
      screening facilitates the identification of individuals who carry MEN1-gene 
      mutations, and allows one to exclude non-mutant gene carriers from further 
      investigations. The prospective biochemical and radiological screening of gene 
      mutation carriers allows the earlier detection of MEN1-associated tumours. 
      Therefore, it might be expected that morbidity and mortality of the MEN1 could be 
      reduced.
FAU - Clerici, T
AU  - Clerici T
AD  - Department of Surgery, Kantonsspital St. Gallen, Switzerland. 
      thomas.clerici@kssg.ch
FAU - Schmid, C
AU  - Schmid C
FAU - Komminoth, P
AU  - Komminoth P
FAU - Lange, J
AU  - Lange J
FAU - Spinas, G A
AU  - Spinas GA
FAU - Brandle, M
AU  - Brandle M
LA  - eng
PT  - Journal Article
PL  - Switzerland
TA  - Swiss Med Wkly
JT  - Swiss medical weekly
JID - 100970884
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Female
MH  - Genetic Carrier Screening
MH  - *Genetic Testing
MH  - Genotype
MH  - Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Switzerland
EDAT- 2001/08/30 10:00
MHDA- 2002/01/05 10:01
CRDT- 2001/08/30 10:00
PHST- 2001/08/30 10:00 [pubmed]
PHST- 2002/01/05 10:01 [medline]
PHST- 2001/08/30 10:00 [entrez]
AID - 10.4414/smw.2001.09730 [doi]
PST - ppublish
SO  - Swiss Med Wkly. 2001 Jun 30;131(25-26):381-6. doi: 10.4414/smw.2001.09730.