| Mutation Analysis Malignant Melanoma |
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Malignant melanoma is a genetically heterogeneous disease. Neither for patients in the metastatic stadium of the disease nor in the adjuvant setting effective therapies were known until recently.
Now, novel targeted therapies focused on specific genetic alterations in individual tumors have opened up a promising new avenue for personalized cancer therapy. Of particular importance for the growth of malignant melanomas are the MAPK/ERK signal transduction and the PIK3CA/AKT/mTOR pathway. About 80% of malignant melanomas exhibit an aberrant activation of these pathways leading to unrestricted tumor growth.
Genetic basis of aberrant activations can be mutations (c-KIT, NRAS, BRAF, PTEN), gene amplification (AKT) or loss of inhibiting factors (PTEN silencing). In view of the key role of these signal transduction pathways a series of specific inhibitors has been developed. One of these inhibitors, Vemurafenib (Zelboraf), has already been approved for the treatment of melanoma patients with advanced V600E-BRAF mutation positive disease. We analyze the complete mutation status of theses pathways. Test pre-conditions Formalin-fixed paraffin-embedded tissue is required. Minute tissue quantities (e. g. needle biopsies) are sufficient.
Test duration Maximum test duration is 7 days. Logistics Formalin-fixed paraffin-embedded tumor tissue blocks routinely prepared by the local pathologists are used. These paraffin blocks are usually archived by the pathologist for 10 years. The paraffin embedded tissue is the property of the patient. Thus, the patient has the right of free disposal. On your written request (e-mail) we can take care of the tissue transfer. |
