PMID- 10594843
OWN - NLM
STAT- MEDLINE
DCOM- 20000113
LR  - 20190915
IS  - 1320-5463 (Print)
IS  - 1320-5463 (Linking)
VI  - 49
IP  - 11
DP  - 1999 Nov
TI  - MEN1 gene mutations in sporadic neuroendocrine tumors of foregut derivation.
PG  - 968-73
AB  - Foregut-derived neuroendocrine (NE) tumors occur sporadically or in association 
      with multiple endocrine neoplasia type 1 (MEN1) syndrome. Thirty-nine sporadic NE 
      tumors of foregut derivation (six thymic, 21 bronchial, three gastric, and nine 
      pancreatic tumors) as well as two hindgut-derived rectal carcinoids for somatic 
      MEN1 gene mutation were analyzed by direct sequencing analysis. Five tumors 
      showed mutations: nonsense mutations (Q393X and R98X) in thymic and pancreatic NE 
      tumors, respectively, a 4 b.p. deletion (357del4) in a gastric NE carcinoma, and 
      missense mutations (D172Y and S178Y) in pancreatic NE tumors. No mutation was 
      identified in pulmonary or rectal NE tumors. In a patient with a pancreatic NE 
      tumor (D172Y), the corresponding germline DNA showed the same mutation, 
      suggesting that sporadic MEN1 syndrome was masked in this case. Somatic MEN1 gene 
      mutations and deletions may play a crucial role in the tumorigenesis of a subset 
      of foregut-derived NE tumors. Sporadic MEN1 syndrome may occur as a sporadic NE 
      tumor of the pancreas.
FAU - Fujii, T
AU  - Fujii T
AD  - Department of Pathology, Jichi Medical School, Minamikawachi, Kawachi, Tochigi, 
      Japan. tfujii@jichi.ac.jp
FAU - Kawai, T
AU  - Kawai T
FAU - Saito, K
AU  - Saito K
FAU - Hishima, T
AU  - Hishima T
FAU - Hayashi, Y
AU  - Hayashi Y
FAU - Imura, J
AU  - Imura J
FAU - Hironaka, M
AU  - Hironaka M
FAU - Hosoya, Y
AU  - Hosoya Y
FAU - Koike, M
AU  - Koike M
FAU - Fukayama, M
AU  - Fukayama M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Australia
TA  - Pathol Int
JT  - Pathology international
JID - 9431380
RN  - 0 (DNA, Neoplasm)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Bronchial Neoplasms/genetics
MH  - DNA, Neoplasm/analysis
MH  - Female
MH  - Gene Deletion
MH  - Genes, Tumor Suppressor/*genetics
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation, Missense
MH  - Neoplasm Proteins/*genetics
MH  - Neoplasms/*genetics
MH  - Neuroendocrine Tumors/*genetics
MH  - Pancreatic Neoplasms/genetics
MH  - *Proto-Oncogene Proteins
MH  - Stomach Neoplasms/genetics
MH  - Thymus Neoplasms/genetics
EDAT- 1999/12/14 00:00
MHDA- 1999/12/14 00:01
CRDT- 1999/12/14 00:00
PHST- 1999/12/14 00:00 [pubmed]
PHST- 1999/12/14 00:01 [medline]
PHST- 1999/12/14 00:00 [entrez]
AID - pin971 [pii]
AID - 10.1046/j.1440-1827.1999.00971.x [doi]
PST - ppublish
SO  - Pathol Int. 1999 Nov;49(11):968-73. doi: 10.1046/j.1440-1827.1999.00971.x.