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Deletion mutations of the juxtamembrane domain of the KIT protooncogene, which encodes a tyrosine kinase receptor, have been associated with malignant behavior of gastrointestinal stromal/smooth muscle tumors (GISTs) (1)(2)(3)(4)(5). Identification of KIT mutations in GISTs is clinically useful because metastasis and death may occur in tumors that are histologically and clinically benign (6). Direct sequence analysis is the method of choice for identifying these mutations. To facilitate routine identification of the most common KIT gene mutations associated with malignant behavior, we have developed a fluorescence-based PCR method in which amplified DNA fragments are analyzed by capillary electrophoresis (CE). The method can be used to detect mutations of KIT exon 11 in the clinical diagnostic laboratory.DNA from 25 cases (26 samples) of paraffin-embedded GISTs originating in the small bowel or colon was isolated by previously published methods (5)(7). Briefly, specimens were first deparaffinized with xylene, and then dehydrated with ethanol. …

Rapid Screening for KIT Mutations by Capillary Electrophoresis