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Gastrointestinal st...
Gastrointestinal stromal tumors with KIT exon 11 deletions are associated with poor prognosis
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- Andersson, Johanna, 1974 (author)
- Göteborgs universitet,University of Gothenburg
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- Bümming, Per, 1965 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,University of Gothenburg
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- Meis-Kindblom, Jeanne, 1952 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,University of Gothenburg
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- Sihto, H. (author)
- Helsinki University Central Hospital
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- Nupponen, N. (author)
- Helsinki University Central Hospital
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- Joensuu, H. (author)
- Helsinki University Central Hospital
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- Odén, Anders, 1942 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för matematiska vetenskaper,Department of Mathematical Sciences,Chalmers tekniska högskola,Chalmers University of Technology,University of Gothenburg
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- Gustavsson, B. (author)
- Novartis Oncology
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- Kindblom, Lars-Gunnar, 1946 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,University of Gothenburg
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- Nilsson, Bengt E, 1949 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,University of Gothenburg
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(creator_code:org_t)
- Elsevier BV, 2006
- 2006
- English.
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In: Gastroenterology. - : Elsevier BV. - 0016-5085 .- 1528-0012. ; 130:6, s. 1573-81
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Abstract
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- BACKGROUND & AIMS: Gain-of-function mutations in the KIT receptor tyrosine kinase gene and rare mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene are important events in gastrointestinal stromal tumor (GIST) development. Different mutations are reportedly associated with distinctive phenotypes and possibly clinical behavior. We investigated the correlation among mutation type, phenotype, and clinical course in a preimatinib, population-based series of GIST with long-term follow-up. METHODS: Genomic DNA from 177 GIST patients was analyzed for KIT exons 9, 11, 13, and 17 and PDGFRA exons 12 and 18 mutations using denaturating high-performance liquid chromatography and bidirectional sequencing. RESULTS: KIT exon 11 mutations were detected in 101 of 177 GIST (61 deletions, 23 missense mutations, and 17 duplications); wild-type (WT) KIT and PDGFRA were detected in 63; KIT exon 9 and exon 17 mutations in 6 and 1, respectively; and PDGFRA exons 12 and 18 mutations in 3 each. GIST >5 cm vs GIST
Keyword
- Adult
- Aged
- Cohort Studies
- DNA Mutational Analysis
- Exons/genetics
- Female
- Gastrointestinal Stromal Tumors/*genetics/*mortality/therapy
- Gene Deletion
- Gene Expression Regulation
- Neoplastic
- Humans
- Male
- Middle Aged
- *Mutation
- Missense
- Probability
- Prognosis
- Proto-Oncogene Proteins c-kit/*genetics
- Receptor
- Platelet-Derived Growth Factor alpha/*genetics
- Retrospective Studies
- Risk Assessment
- Sensitivity and Specificity
- Survival Rate
- Tumor Markers
- Biological
- Survival Rate
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Andersson, Johan ...
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Bümming, Per, 19 ...
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Meis-Kindblom, J ...
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Sihto, H.
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Nupponen, N.
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Joensuu, H.
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show more...
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Odén, Anders, 19 ...
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Gustavsson, B.
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Kindblom, Lars-G ...
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Nilsson, Bengt E ...
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- Articles in the publication
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Gastroenterology
- By the university
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University of Gothenburg
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Chalmers University of Technology