Method and compositions for detecting epidermal growth factor receptor variant forms in cancer cells

Abstract

Methods, compositions and kits for screening for the presence of Epidermal Growth Factor Receptor variant 3 (EGFR(v3)) in a sample are disclosed. The method comprises obtaining a sample containing a plurality of cells; hybridizing a set of chromosomal probes to the sample, wherein the set comprises an EGFR(v3)-probe and a probe to chromosome 7 different from an EGFR(v3)-probe; and visualizing the hybridization pattern of the set of chromosomal probes in the plurality of cells of the sample, wherein the presence of at least one copy of chromosome 7 lacking a hybridization signal of the EGFR(v3)-probe in at least one cell is indicative of the presence of the EGFR(v3) in the sample. The methods, compositions and kits are suitable for diagnosing the therapeutic outcome for treating a patient having a cancer with an anti-EGFR therapeutic agent and for screening a sample for a predisposition for forming an EGFR-associated cancer.

What is claimed is: 
     
         1 . A kit consisting of a set of chromosomal probes and optionally one or more reagents selected from the group consisting of a slide, phosphate buffered saline, hybridization buffer, 4,6-diamidino-2-phenylindole dihydrochloride, sodium chloride-sodium citrate solution, fixative, ethanol, non-ionic detergent, and denaturation buffer,
 wherein the set of chromosomal probes comprises an EGFR(v3) probe and at least one member selected from the group consisting of a CEP 7 probe, a 7p12 probe and an EGFR probe,   wherein the probes are labeled such that each probe can be distinctly visualized after hybridization to a biological sample.   
     
     
         2 . The kit of  claim 1 , wherein the set of chromosomal probes comprises at least one nucleic acid sequence lacking repetitive sequence elements.