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

J Andersson, P Bumming, Jeanne Meis-Kindblom, H Sihto, N Nupponen, H Joensuu, A Oden, B Gustavsson, Lars-Gunner Kindblom, B Nilsson

Research output: Contribution to journalArticle

186 Citations (Scopus)


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
Original languageEnglish
Pages (from-to)1573-1581
Number of pages9
Publication statusPublished - 1 May 2006


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