PMID- 18616711
OWN - NLM
STAT- MEDLINE
DCOM- 20090814
LR  - 20091119
IS  - 1365-2265 (Electronic)
IS  - 0300-0664 (Linking)
VI  - 70
IP  - 4
DP  - 2009 Apr
TI  - Multiple endocrine neoplasia type 1 (MEN1): its manifestations and effect of 
      genetic screening on clinical outcome.
PG  - 575-81
LID - 10.1111/j.1365-2265.2008.03324.x [doi]
AB  - OBJECTIVE: Effect of genetic screening on outcome in multiple endocrine neoplasia 
      type 1 (MEN1) remains unclear. Expression of MEN1 is described using currently 
      available diagnostic techniques. Manifestations and outcome are compared in 
      patients diagnosed because of clinical expression with those diagnosed by genetic 
      screening. DESIGN: Retrospective cohort study. Patients are divided into two 
      groups: patients with a (i) clinical MEN1 diagnosis and (ii) MEN1 diagnosis by 
      genetic screening. PATIENTS AND MEASUREMENTS: Demographic and clinical data were 
      collected on MEN1 patients treated in the UMCU up to 1 January 2008. Results of 
      mutation analysis were obtained from the Department of Medical Genetics. RESULTS: 
      A total of 74 patients was included (median follow-up 5.5 year); 78% had 
      hyperparathyroidism, 46% a pancreatic neuro-endocrine tumour (NET), 38% a 
      pituitary abnormality, 8% a NET of other origin and 16% an adrenal adenoma at the 
      end of follow-up. Of the patients 18% had no manifestation. All five MEN1-related 
      tumours were seen as first manifestation. Compared with patients identified by 
      genetic screening, patients with a clinical MEN1 diagnosis had significantly more 
      manifestations at diagnosis (P < 0.001) and at end of follow-up (P = 0.002). 
      Eleven of 30 patients with a genetic MEN1 diagnosis (mean age at diagnosis 30.0 
      years) already had manifestations at diagnosis. No malignancy or death was seen 
      in genetically diagnosed patients. CONCLUSIONS: MEN1 is a syndrome with high 
      morbidity. Genetic diagnosis is associated with less morbidity at diagnosis and 
      at follow-up. Early genetic diagnosis might therefore lead to improvement of 
      long-term outcome.
FAU - Pieterman, C R C
AU  - Pieterman CR
AD  - Department of Internal Medicine, University Medical Center Utrecht, Utrecht, The 
      Netherlands.
FAU - Schreinemakers, J M J
AU  - Schreinemakers JM
FAU - Koppeschaar, H P F
AU  - Koppeschaar HP
FAU - Vriens, M R
AU  - Vriens MR
FAU - Rinkes, I H M Borel
AU  - Rinkes IH
FAU - Zonnenberg, B A
AU  - Zonnenberg BA
FAU - van der Luijt, R B
AU  - van der Luijt RB
FAU - Valk, G D
AU  - Valk GD
LA  - eng
PT  - Journal Article
DEP - 20080625
PL  - England
TA  - Clin Endocrinol (Oxf)
JT  - Clinical endocrinology
JID - 0346653
SB  - IM
MH  - Adenoma/diagnosis/genetics
MH  - Adolescent
MH  - Adrenal Gland Neoplasms/diagnosis/genetics
MH  - Adult
MH  - Aged
MH  - Child
MH  - Cohort Studies
MH  - Female
MH  - Follow-Up Studies
MH  - *Genetic Testing
MH  - Humans
MH  - Hyperparathyroidism/diagnosis/genetics
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/*genetics
MH  - Neuroendocrine Tumors/diagnosis/genetics
MH  - Pancreatic Neoplasms/diagnosis/genetics
MH  - Prognosis
MH  - Retrospective Studies
MH  - Young Adult
EDAT- 2008/07/12 09:00
MHDA- 2009/08/15 09:00
CRDT- 2008/07/12 09:00
PHST- 2008/07/12 09:00 [pubmed]
PHST- 2009/08/15 09:00 [medline]
PHST- 2008/07/12 09:00 [entrez]
AID - CEN3324 [pii]
AID - 10.1111/j.1365-2265.2008.03324.x [doi]
PST - ppublish
SO  - Clin Endocrinol (Oxf). 2009 Apr;70(4):575-81. doi: 
      10.1111/j.1365-2265.2008.03324.x. Epub 2008 Jun 25.