EGFR amplification, (7p12)
EGFR, also known as HER1 / ERBB1, is a member of the EGFR family that also includes HER2 / ERBB2, HER3 / ERBB3 and HER4 / ERBB4 genes. The EGFR gene encodes a transmembrane glycoprotein with tyrosine kinase activity, which presumably plays a key role in the control of cell proliferation. EGFR amplification has been described in many cancers, including gliomas, breast, bladder, lung, brain, colorectal, ovarian and papillary thyroid tumors. It has been associated with early relapse, aggressive growth (invasion and metastasis), end-stage disease, chemotherapy resistance, resistance or poor response to hormone therapy and generally poor prognosis. Some studies indicate that activation of wild-type EGFR promotes invasion and glioblastoma development independent of angiogenesis, whereas loss of its activity results in angiogenic tumor growth.
EGFR amplification is mutually exclusive of chromosome arms 1p/19q codeletion in gliomas. This marker of poor prognosis in patients of all ages is important for the differential diagnosis between small cell glioblastomas and anaplastic oligodendrogliomas.
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