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Gastrointestinal stromal tumors with KIT exon 11 deletions are associated with poor prognosis

Johanna Andersson ; Per Bümming ; Jeanne Meis-Kindblom ; H. Sihto ; N. Nupponen ; H. Joensuu ; Anders Odén (Institutionen för matematiska vetenskaper) ; B. Gustavsson ; Lars-Gunnar Kindblom ; Bengt E Nilsson
Gastroenterology (0016-5085 (Print)). Vol. 130 (2006), 6, p. 1573-81.
[Artikel, refereegranskad vetenskaplig]

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

Nyckelord: 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

Denna post skapades 2007-10-10. Senast ändrad 2011-01-20.
CPL Pubid: 52468


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Institutioner (Chalmers)

Institutionen för kliniska vetenskaper, sektionen för kirurgi och kirurgisk gastroforskning (GU)
Institutionen för biomedicin, avdelningen för patologi (GU)
Institutionen för matematiska vetenskaperInstitutionen för matematiska vetenskaper (GU)



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