Article ; Online: Tyrosine kinase mutations in gastrointestinal stromal tumors in a nation-wide study in Iceland.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica
2010 Volume 118, Issue 9, Page(s) 648–656
Abstract: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. It is characterized by activating mutations in the tyrosine kinase genes c-kit or PDGFRA. This study examined the mutation rate and type in a ... ...
| Abstract | Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. It is characterized by activating mutations in the tyrosine kinase genes c-kit or PDGFRA. This study examined the mutation rate and type in a population-based material. All gastrointestinal mesenchymal tumors over the years 1990-2004 were evaluated and GIST tumors identified using immunohistochemistry (c-kit) and conventional pathologic parameters. Paraffin sections from all tumors were subjected to mutation analysis on exons 9, 11, 13 and 17 of the c-kit gene and exons 12 and 18 of the PDGFRA gene. To screen for mutations, we used a highly sensitive conformation-sensitive gel electrophoresis (CSGE) and to define the mutated alleles, we employed direct automated DNA sequencing. All c-kit-positive gastrointestinal mesenchymal tumors were entered into the study. Fifty-six tumors from 55 patients were analyzed. Mutations were found in 52 tumors representing a 92.9% mutational rate. Most of the mutations were found in c-kit exon 11 (76.8%), followed by c-kit exon 9 (10.7%). PDGFRA mutations were only found in three tumors. No correlation of mutation type with biologic behavior was found. This population-based study, using a sensitive CSGE method, identifies mutations in the great majority of patients with GIST. |
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| MeSH term(s) | Adult ; Aged ; Aged, 80 and over ; DNA Primers ; DNA, Neoplasm/genetics ; DNA, Neoplasm/isolation & purification ; Exons ; Female ; Gastrointestinal Stromal Tumors/enzymology ; Gastrointestinal Stromal Tumors/genetics ; Gastrointestinal Stromal Tumors/pathology ; Humans ; Iceland ; Male ; Middle Aged ; Mutation ; Point Mutation ; Protein-Tyrosine Kinases/genetics ; Proto-Oncogene Proteins c-kit/genetics ; Receptor, Platelet-Derived Growth Factor alpha/genetics ; Retrospective Studies ; Sequence Deletion | |||||
| Chemical Substances | DNA Primers ; DNA, Neoplasm ; Protein-Tyrosine Kinases (EC 2.7.10.1) ; Proto-Oncogene Proteins c-kit (EC 2.7.10.1) ; Receptor, Platelet-Derived Growth Factor alpha (EC 2.7.10.1) | |||||
| Language | English | |||||
| Publishing date | 2010-09-01 | |||||
| Publishing country | Denmark | |||||
| Document type | Journal Article | |||||
| ZDB-ID | 93340-5 | |||||
| ISSN | 1600-0463 ; 0903-4641 | |||||
| ISSN (online) | 1600-0463 | |||||
| ISSN | 0903-4641 | |||||
| DOI | 10.1111/j.1600-0463.2010.02643.x | |||||
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| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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