Gastrointestinal stromal tumors with KIT exon 11 deletions are associated with poor prognosis
Artikel i vetenskaplig tidskrift, 2006
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
Proto-Oncogene Proteins c-kit/*genetics
Sensitivity and Specificity
Retrospective Studies
Middle Aged
Humans
Neoplastic
*Mutation
Cohort Studies
Platelet-Derived Growth Factor alpha/*genetics
Tumor Markers
Gene Expression Regulation
Male
Biological
Aged
Missense
Receptor
Exons/genetics
Gastrointestinal Stromal Tumors/*genetics/*mortality/therapy
DNA Mutational Analysis
Survival Rate
Prognosis
Probability
Adult
Risk Assessment
Female
Gene Deletion
Författare
Johanna Andersson
Göteborgs universitet
Per Bümming
Göteborgs universitet
Jeanne Meis-Kindblom
Göteborgs universitet
H. Sihto
Helsinki University Central Hospital
N. Nupponen
Helsinki University Central Hospital
H. Joensuu
Helsinki University Central Hospital
Anders Odén
Göteborgs universitet
Chalmers, Matematiska vetenskaper
B. Gustavsson
Novartis International AG
Lars-Gunnar Kindblom
Göteborgs universitet
Bengt E Nilsson
Göteborgs universitet
Gastroenterology
0016-5085 (ISSN) 1528-0012 (eISSN)
Vol. 130 6 1573-81Ämneskategorier (SSIF 2011)
MEDICIN OCH HÄLSOVETENSKAP
DOI
10.1053/j.gastro.2006.01.043
PubMed
16697720