PMID- 17590169
OWN - NLM
STAT- MEDLINE
DCOM- 20080501
LR  - 20070920
IS  - 0300-0664 (Print)
IS  - 0300-0664 (Linking)
VI  - 67
IP  - 4
DP  - 2007 Oct
TI  - Age-related penetrance of endocrine tumours in multiple endocrine neoplasia type 
      1 (MEN1): a multicentre study of 258 gene carriers.
PG  - 613-22
AB  - OBJECTIVE: In multiple endocrine neoplasia type 1 (MEN1), age-related tumour 
      penetrance according to the type of MEN1 germline mutation has not been 
      investigated in-depth. This study was conducted to examine whether carriers of 
      out-of-frame/truncating and in-frame MEN1 mutations differ in age-related tumour 
      penetrance. DESIGN: A multicentre study with biochemical, hormonal and 
      radiological screening for MEN1-associated tumours. PATIENTS: A total of 258 MEN1 
      carriers from six major German tertiary referral centres averaging 43 years of 
      age at last follow-up. MEASUREMENTS: Main outcome measure was time to first 
      diagnosis of MEN1-associated tumours. RESULTS: Independent of the year of birth 
      and observation period, time to first tumour diagnosis did not vary much by the 
      type of MEN1 germline mutation or endocrine organ system, and perhaps not even by 
      the type of endocrine tumour when the amount of time was considered by which the 
      diagnosis probably has been advanced through the manifestation of hormonal 
      symptoms. Parathyroid hyperplasia and adenomas developed almost twice as often as 
      enteropancreatic and pituitary tumours (77%vs. 49-32%), and more than five to 
      sevenfold as often as adrenal cortical tumours and carcinoids (77%vs. 15-10%), 
      reaching penetrance rates of up to 90%, 60%, 40%, 26% and 17%, respectively. The 
      heterogeneity of tumour penetrance was marked, ranging from 9 years to 25 years 
      for the earliest, and from 68 years to 77 years for the latest tumour 
      manifestation. CONCLUSIONS: Because of our inability of predicting tumour 
      penetrance and malignant transformation individually, life-long follow-up of MEN1 
      carriers is warranted to prevent tumour morbidity.
FAU - Machens, Andreas
AU  - Machens A
AD  - Department of General, Visceral and Vascular Surgery, Martin-Luther-University, 
      Halle (Saale), Germany. AndreasMachens@aol.com
FAU - Schaaf, Ludwig
AU  - Schaaf L
FAU - Karges, Wolfram
AU  - Karges W
FAU - Frank-Raue, Karin
AU  - Frank-Raue K
FAU - Bartsch, Detlef K
AU  - Bartsch DK
FAU - Rothmund, Matthias
AU  - Rothmund M
FAU - Schneyer, Ulrich
AU  - Schneyer U
FAU - Goretzki, Peter
AU  - Goretzki P
FAU - Raue, Friedhelm
AU  - Raue F
FAU - Dralle, Henning
AU  - Dralle H
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
DEP - 20070621
PL  - England
TA  - Clin Endocrinol (Oxf)
JT  - Clinical endocrinology
JID - 0346653
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aging/*genetics
MH  - Analysis of Variance
MH  - Child
MH  - Female
MH  - *Germ-Line Mutation
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics/mortality
MH  - *Penetrance
EDAT- 2007/06/26 09:00
MHDA- 2008/05/02 09:00
CRDT- 2007/06/26 09:00
PHST- 2007/06/26 09:00 [pubmed]
PHST- 2008/05/02 09:00 [medline]
PHST- 2007/06/26 09:00 [entrez]
AID - CEN2934 [pii]
AID - 10.1111/j.1365-2265.2007.02934.x [doi]
PST - ppublish
SO  - Clin Endocrinol (Oxf). 2007 Oct;67(4):613-22. doi: 
      10.1111/j.1365-2265.2007.02934.x. Epub 2007 Jun 21.