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Detection of Gene Deletion and Amplifications in Tumor Cells

Deletion of tumor suppressor genes such as p53 and RB- 5. 1 and amplification of oncogenes such as N-myc, C-myc, and HER-2/neu can be detected by FISH or CGH studies of tumor tissues. FISH has advantages over Southern blot analysis in terms of speed, technical simplicity, ability to 6 discern heterogeneous gene amplification among tumor cells in the same specimen, and capacity to determine the source of the amplified gene signals. Amplification of 7 C-myc has been detected by FISH in many different types of tumors, including medulloblastoma, malignant melanoma, lung cancer, nasopharyngeal carcinoma, ovar- g ian cancer, and prostate cancer. Testing of the HER-2/ neu gene in breast cancer has become very important for patient management because of its association with an aggressive disease that can be successfully treated with 9. Herceptin. A combined immunohistochemistry and FISH approach has made the test more sensitive and cost-effective.[24]

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