PMID- 12144911
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20191120
IS  - 1879-0828 (Electronic)
IS  - 0953-6205 (Linking)
VI  - 13
IP  - 5
DP  - 2002 Aug
TI  - MEN1 gene mutations are a rare event in patients with sporadic neuroendocrine 
      tumors.
PG  - 319-323
AB  - BACKGROUND: Neuroendocrine tumors of the gastroenteropancreatic (GEP) tract are 
      encountered either as a sporadic type or as part of multiple endocrine neoplasia 
      type 1 (MEN-1) syndrome. Inactivating MEN1 gene mutations have been found to be 
      responsible for this syndrome and have also been described in sporadic cases. The 
      aim of the present study was to evaluate the presence of mutations in the MEN1 
      gene in a series of 10 well-differentiated neuroendocrine tumors: five of the 
      foregut and five of the midgut tract. METHODS: Retrospective screening for MEN1 
      gene mutations was carried out in 10 archived, paraffin-embedded neuroendocrine 
      tumors. Polymerase chain reaction amplification and automated sequence analysis 
      of the DNA extracted from the tumors were performed. RESULTS: One mutation (359 
      del 4) in exon 2 of the MEN1 gene was identified in a neuroendocrine tumor of the 
      foregut (VIPoma of the pancreas). No mutation was identified in midgut 
      neuroendocrine tumors. CONCLUSIONS: Our data confirm that retrospective genetic 
      analysis can be used to identify mutations in the MEN1 gene and indicate that 
      somatic MEN1 gene mutations are a rare event in sporadic neuroendocrine GEP 
      tumors. The frequency of these mutations was 10% in our series, which may differ 
      from that in other studies, due to the small number of cases analyzed.
FAU - Asteria, C
AU  - Asteria C
AD  - Institute of Endocrine Sciences, Ospedale Maggiore IRCCS, University of Milan, 
      Via F. Sforza 35, 20122, Milan, Italy
FAU - Anagni, M
AU  - Anagni M
FAU - Fugazzola, L
AU  - Fugazzola L
FAU - Faglia, G
AU  - Faglia G
FAU - Vezzadini, P
AU  - Vezzadini P
FAU - Beck-Peccoz, P
AU  - Beck-Peccoz P
LA  - eng
PT  - Journal Article
PL  - Netherlands
TA  - Eur J Intern Med
JT  - European journal of internal medicine
JID - 9003220
EDAT- 2002/07/30 10:00
MHDA- 2002/07/30 10:01
CRDT- 2002/07/30 10:00
PHST- 2002/07/30 10:00 [pubmed]
PHST- 2002/07/30 10:01 [medline]
PHST- 2002/07/30 10:00 [entrez]
AID - S095362050200064X [pii]
AID - 10.1016/s0953-6205(02)00064-x [doi]
PST - ppublish
SO  - Eur J Intern Med. 2002 Aug;13(5):319-323. doi: 10.1016/s0953-6205(02)00064-x.