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

• 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

Survival Rate

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)