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EGFR Amplification in a Patient with Glioblastoma: A Case Report and Review of the Literature.

作者信息

Hurtado Rodrigo, Peng Emily, Yee Justin, Tran Caitlyn, Glaser James, Tirado Carlos A

机构信息

The International Circle of Genetics Studies, Los Angeles, CA.

University of California Los Angeles, Los Angeles, CA.

出版信息

J Assoc Genet Technol. 2022;48(1):24-31.

Abstract

Glioblastoma Multiforme (GBM) is the most malignant and frequently occurring primary brain tumor out of the different types of primary astrocytomas. It presents with an extremely poor prognosis, with a median survival of 14 to 15 months from the diagnosis. Herein, we present an 83-year-old female patient with a right frontal brain mass. A craniotomy for the frontal brain mass was performed, which revealed a tumor with high-grade glioma, necrosis, atypia, and vascular proliferation. The patient was subsequently diagnosed with Glioblastoma Multiforme Grade IV (GBM). Molecular cytogenetic studies showed an amplification of the EGFR gene in 100% nuclei scored. Amplification of EGFR appears in around 40-50% of individuals with Glioblastoma Multiforme Grade IV, leading to high levels of EGFR protein levels that contribute to tumorigenesis. Chromosomal deletions involving 1p36 and 19q13 are characteristic molecular features of solid tumors such as oligodendrocytes and mixed oligoastrocytomas, but in this case there was no evidence of a co-deletion of 1p36/19q13 in this case of glioblastoma.

摘要

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