Brain Tumor : EGFR Amplification Analysis

Turnaround Time

10 days

CPT Code(s)

81406

Cost

$1,000

Genes

Frequent copy number changes are also noted in gliomas, particularly those having higher grade malignancies. Gain of chromosome 7 is associated with epidermal growth factor receptor (EGFR) amplification in gliomas. EGFR amplification is reported in GBM at a frequency of 30-40% and is correlated with poor prognosis and increased progression to stage IV disease. Furthermore, EGFR mutations are also reported in gliomas and are associated with EGFR overexpression. EGFR overexpression is typically found without IDH1 mutation in high-grade gliomas. Despite EGFR overexpression in gliomas, treatment with EGFR inhibitors has not produced notable results (Oncotarget (2016) 7(22): 33440-33450).

Gene sequencing and targeted mutation testing and copy number analysis can serve as a useful diagnostic and potentially prognostic tool for the analysis of affected tissues or tumors. The detection of copy number variants or specific gene mutations may enhance treatment decisions.

Analysis can be performed on fresh or frozen tissue samples as well as formalin-fixed, paraffin-embedded tissue samples.

The specimen should be kept at the appropriate temperature and delivered via overnight shipping.