PMID- 14648742
OWN - NLM
STAT- MEDLINE
DCOM- 20040108
LR  - 20061115
IS  - 0007-1323 (Print)
IS  - 0007-1323 (Linking)
VI  - 90
IP  - 12
DP  - 2003 Dec
TI  - Prevalence of multiple endocrine neoplasia type 1 in young patients with 
      apparently sporadic primary hyperparathyroidism or pancreaticoduodenal endocrine 
      tumours.
PG  - 1599-603
AB  - BACKGROUND: The appropriate treatment for a sporadic endocrine tumour may be 
      different from those that present as part of the multiple endocrine neoplasia 
      type 1 (MEN1) syndrome. As primary hyperparathyroidism (pHPT) and 
      pancreaticoduodenal endocrine tumours (PETs) are the most common organ 
      manifestations of MEN1, the prevalence of germline mutations in the MEN1 gene was 
      determined in young patients with apparently sporadic pHPT or PETs. METHODS: 
      Eighteen of 705 patients with pHPT and 11 of 93 patients with PETs operated on 
      between 1987 and 2001 had no family history of MEN1, only one organ manifestation 
      and were aged 40 years or less at the time of diagnosis. Fifteen patients with 
      pHPT and eight with PETs agreed to MEN1 gene mutation analysis, which was 
      performed by single-strand conformational variant analysis and direct DNA 
      sequencing. RESULTS: Two of 15 patients (13.3 (95 per cent confidence interval 
      (c.i.) 1.6 to 40.4) per cent) with apparently sporadic pHPT had a MEN1 germline 
      mutation. Both mutations were found in patients with pHPT due to multiglandular 
      disease, whereas the remaining 13 patients had a solitary adenoma. None of the 
      eight patients with PETs carried a MEN1 germline mutation. CONCLUSION: Sporadic 
      pHPT due to multiglandular disease in patients younger than 40 years may 
      represent the first organ manifestation of MEN1 despite a negative family 
      history.
CI  - Copyright 2003 British Journal of Surgery Society Ltd. Published by John Wiley & 
      Sons, Ltd.
FAU - Langer, P
AU  - Langer P
AD  - Department of General Surgery, Philipps University Marburg, Marburg, Germany.
FAU - Wild, A
AU  - Wild A
FAU - Hall, A
AU  - Hall A
FAU - Celik, I
AU  - Celik I
FAU - Rothmund, M
AU  - Rothmund M
FAU - Bartsch, D K
AU  - Bartsch DK
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Br J Surg
JT  - The British journal of surgery
JID - 0372553
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - DNA Mutational Analysis
MH  - Duodenal Neoplasms/*genetics
MH  - Female
MH  - Germ-Line Mutation/*genetics
MH  - Humans
MH  - Hyperparathyroidism/*genetics
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pancreatic Neoplasms/*genetics
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
MH  - Prospective Studies
EDAT- 2003/12/04 05:00
MHDA- 2004/01/09 05:00
CRDT- 2003/12/04 05:00
PHST- 2003/12/04 05:00 [pubmed]
PHST- 2004/01/09 05:00 [medline]
PHST- 2003/12/04 05:00 [entrez]
AID - 10.1002/bjs.4355 [doi]
PST - ppublish
SO  - Br J Surg. 2003 Dec;90(12):1599-603. doi: 10.1002/bjs.4355.