KIT and PDGFRα mutations in 104 patients with gastrointestinal stromal tumors (GISTs): a population-based study

Braconi, C. et al. (2008) KIT and PDGFRα mutations in 104 patients with gastrointestinal stromal tumors (GISTs): a population-based study. Annals of Oncology, 19(4), pp. 706-710. (doi: 10.1093/annonc/mdm503) (PMID:18187489)

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Background: The prognostic significance of KIT or platelet-derived growth factor receptor α (PDGFRα) mutations in gastrointestinal stromal tumors (GISTs) is still controversial. Patients and methods: In all, 104 patients were diagnosed with GISTs by KIT immunoreactivity; tumor DNA was sequenced for the presence of mutations in KIT exons 9, 11, 13 and 17 and in PDGFRα exons 12 and 18. Disease-free survival (DFS) was analyzed in 85 radically resected patients. Results: KIT mutations occurred in exon 11 (69), in exon 9 (11) and in exon 17 (1). PDGFRα mutations were detected in exon 18 (10) and in exon 12 (3). Ten GISTs were wild type. Exon 11 mutations were as follows: deletions in 42 cases and point mutations in 20 cases and insertions and duplications, respectively, in 2 and 5 cases. A better trend in DFS was evident for duplicated and point-mutated exon 11 KIT GISTs. There was a significant association between PDGFRα mutations, gastric location and lower mitotic index. Moreover, PDGFRα-mutated GISTs seemed to have a better outcome. Conclusions: Point mutations and duplications in KIT exon 11 are associated with a better clinical trend in DFS. PDGFRα-mutated GISTs are preferentially localized in the stomach and seem to have a favorable clinical behavior.

Item Type:Articles
Glasgow Author(s) Enlighten ID:Braconi, Dr Chiara and Valeri, Dr Nicola
Authors: Braconi, C., Bracci, R., Bearzi, I., Bianchi, F., Costagliola, A., Catalani, R., Mandolesi, A., Ranaldi, R., Galizia, E., Cascinu, S., Rossi, G., Giustini, L., Latini, L., Valeri, N., and Cellerino, R.
College/School:College of Medical Veterinary and Life Sciences > School of Cancer Sciences
Journal Name:Annals of Oncology
Publisher:Oxford University Press
ISSN (Online):1569-8041
Published Online:10 January 2008

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