Source:http://linkedlifedata.com/resource/pubmed/id/10594843
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
11
|
| pubmed:dateCreated |
2000-1-13
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
1320-5463
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
49
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
968-73
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:10594843-Adult,
pubmed-meshheading:10594843-Aged,
pubmed-meshheading:10594843-Bronchial Neoplasms,
pubmed-meshheading:10594843-DNA, Neoplasm,
pubmed-meshheading:10594843-Female,
pubmed-meshheading:10594843-Gene Deletion,
pubmed-meshheading:10594843-Genes, Tumor Suppressor,
pubmed-meshheading:10594843-Germ-Line Mutation,
pubmed-meshheading:10594843-Humans,
pubmed-meshheading:10594843-Loss of Heterozygosity,
pubmed-meshheading:10594843-Male,
pubmed-meshheading:10594843-Middle Aged,
pubmed-meshheading:10594843-Multiple Endocrine Neoplasia Type 1,
pubmed-meshheading:10594843-Mutation, Missense,
pubmed-meshheading:10594843-Neoplasm Proteins,
pubmed-meshheading:10594843-Neoplasms,
pubmed-meshheading:10594843-Neuroendocrine Tumors,
pubmed-meshheading:10594843-Pancreatic Neoplasms,
pubmed-meshheading:10594843-Proto-Oncogene Proteins,
pubmed-meshheading:10594843-Stomach Neoplasms,
pubmed-meshheading:10594843-Thymus Neoplasms
|
| pubmed:year |
1999
|
| pubmed:articleTitle |
MEN1 gene mutations in sporadic neuroendocrine tumors of foregut derivation.
|
| pubmed:affiliation |
Department of Pathology, Jichi Medical School, Minamikawachi, Kawachi, Tochigi, Japan. tfujii@jichi.ac.jp
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|