Transgenomic's Wave System used to address challenges in the diagnosis and treatment of gastrointestinal stromal tumours; study identifies spectrum of cancer-associated mutations
Transgenomic has announced the publication of a study in which its Wave System was utilised to detect mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene in gastrointestinal stromal tumours (Gists).
This study entailed analysis of the spectrum of mutations identified in a series of Gists from more than 1000 patients, coupled with assessment of the impact of various mutations on sensitivity/resistance to imatinib.
Results suggested that mutation screening is likely to play an increasing role in the management of GIST patients treated with imatinib or other drugs currently in development.
Christopher Corless and Michael Heinrich (Department of Pathology; Division of Hematology and Oncology, Oregon Health and Science University Cancer Institute) and colleagues described this work in an article entitled "PDGFRA Mutations in Gastrointestinal Stromal Tumors: Frequency, Spectrum, and In Vitro Sensitivity to Imatinib", which was published in the 10 August 2005 issue of the Journal of Clinical Oncology.
Corless commented on the significance of this work.
"While the majority of activating mutations in GIST are found in a different gene - the Kit gene, Gists with mutations in PDGFRA represent a subset that poses new challenges in diagnosis and treatment".
"These tumours more often test weakly or negative for Kit protein expression, the current 'gold standard' for Gist diagnosis and initiation of imatinib therapy".
"In addition, based on our results, approximately two-thirds of Gists are likely to be imatinib-resistant based on the presence of specific mutations, while the remaining third, harboring different mutations, are in fact likely to respond to standard therapy." Collin D'Silva, Transgenomic's chairman and CEO, commented: "Important work by the team of Corless, Heinrich, and colleagues over the past several years has contributed enormously to advancing the 'bench-to-bedside' story associated with Gist.
"We believe their results to date strongly suggest that mutation screening of both the Kit and PDGFRA genes could be of significant benefit in the management of Gist patients".
"We are delighted to see our technology deployed so productively in their research, and we are optimistic about its potential positive impact on patient care."
