Structural alterations of the epidermal growth factor receptor gene in human gliomas

摘要: Abstract The epidermal growth factor receptor (EGFR) gene is amplified in 40% of malignant gliomas, and the genes are frequently rearranged. We have characterized genetic alterations associated with these rearrangements five gliomas. In one tumor rearrangement resulted deletion most extracytoplasmic domain receptor, resulting a hybrid mRNA between new sequences truncated EGFR sequence. The predicted amino acid sequence protein from this was remarkably similar to that described for several viral erbB oncogenes. Four other tumors were noted internal deletions gene. These brought about in-frame affecting either two cysteine-rich domains portion molecule. clonal nature alterations, fact identical seen more than tumor, suggests role mutant proteins tumorigenesis. Further, studies document existence tumor-specific cell surface molecules somatic mutation.