WAVE System Aids Diagnosis of GISTS

(Omaha, NE, USA) was able to detect mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene in gastrointestinal stromal tumors (GISTs), thereby aiding the diagnosis and treatment of GISTS. These findings were reported in the August 10, 2005, issue of the Journal of Clinical Oncology.

The study entailed analysis of the spectrum of mutations identified in a series of GISTs from more than 1,000 patients, coupled with assessment of the impact of various mutations on in vitro sensitivity/resistance to the drug imatinib. The results suggested that mutation screening is increasingly important in the management of GIST patients treated with imatinib or other drugs in development.

"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,” explained Dr. Christopher Corless, of the department of pathology, division of hematology and oncology, Oregon Health & Science University Cancer Institute (Portland, OR, USA). "These tumors more often test weakly or negative for KIT protein expression, the current ‘gold standard' for GIST diagnosis and initiation of imatinib therapy.”

Dr. Corless also noted that about 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.

The WAVE system is specifically designed for use in genetic-variation detection and has broad applicability to genetic research and molecular diagnostics. The high analytic sensitivity of the system makes it well-suited for the advancement of personalized medicine.





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Transgenomic
Oregon H&S U. Cancer Institute