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

Female

Gene Deletion

Risk Assessment

Neoplastic

Gastrointestinal Stromal Tumors/*genetics/*mortality/therapy

Probability

Tumor Markers

Exons/genetics

Prognosis

Humans

Cohort Studies

Biological

Missense

Adult

Survival Rate

Receptor

Proto-Oncogene Proteins c-kit/*genetics

DNA Mutational Analysis

Gene Expression Regulation

Sensitivity and Specificity

Retrospective Studies

Aged

*Mutation

Male

Middle Aged

Platelet-Derived Growth Factor alpha/*genetics

Författare

Johanna Andersson

Sahlgrenska akademin

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 Oncology

Lars-Gunnar Kindblom

Göteborgs universitet

Bengt E Nilsson

Göteborgs universitet

Gastroenterology

0016-5085 (ISSN) 1528-0012 (eISSN)

Vol. 130 1573-81

Ämneskategorier

MEDICIN OCH HÄLSOVETENSKAP

DOI

10.1053/j.gastro.2006.01.043

PubMed

16697720