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Overview
EGFR mutations in adenocarcinoma of the lung are reported in 15% of Western patients and 50% of Asian patients. The most common EGFR mutations are the short in-frame deletion of exon 19 and the L858R point mutation in exon 21. Combined, these two mutations account for ~90% of all EGFR mutations. Patients with these mutations have a significantly higher rate of response to EGFR tyrosine kinase inhibitors (TKIs) such as gefitinib and erlotinib as a first line treatment and have increased progression free survival. On the other hand, the T790M point mutation in exon 20 of the EGFR gene is the most common mechanism of acquired resistance to EGFR TKIs.
EGFR TKI Sensitive G719X Exon 19 Deletion L858R L861Q
Exon 18
Exon 19
Exon 20
T790M
Exon 21
EGFR TKI Resistant
Exon 20 Insertion
Non-Small Cell Lung Cancer (NSCLC). Aids in determining treatment and management of non-small cell lung cancer (NSCLC). Assess patients for EGFR TKI therapy (gefitinib or erlotinib).
PCR amplification and pyrosequencing are used to detect mutation(s) in the DNA isolated from the patients biopsy embedded in paraffin (FFPE).
Assay Specifications
Specimen Requirements 10% neutral buffered formalin-fixed paraffin-embedded (FFPE) tissue. 3-5m thick FFPE sections on positively coated slides. Stored and transported at room temperature. Licensure CAP (Laboratory #: 7191582, AU-ID: 1434060), CLIA (Certificate #: 31D1038733), New Jersey (CLIS ID #: 0002299), New York State (PFI: 8192), Pennsylvania (031978), Florida (800018142), Maryland (1395) CPT Codes 81235
Reporting Results are reported as positive or negative for mutations in Exons 18, 19, 20 and 21.
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Patient Name: Sex: q Male q Female Date of Birth: Specimen: Collected: Received: Reported: Clinical Hx:
Accession Number: CGI ID No: Ordering Physician: Client: Client Account No: Client ID No: Client Address: Telephone:
Positive for an EGFR delL747-T751 mutation in Exon 19. The Exon 19 deletion is reported to be correlated with responsiveness to EGFR tyrosine kinase inhibitor therapies in patients with NSCLC. The EGFR oncogene is located at chromosome 7p12, and encodes a170-KD transmembrane glycoprotein. This protein is a receptor for members of the epidermal growth factor family. Mutations in the EGFR gene are associated with lung cancer. The EGFR mutations are found in non-small cell lung cancer, with higher EGFR mutation frequency found in non-smokers, women, and non-mucinous tumors. Mutations in the tyrosine kinase domain of the EGFR gene can affect the response of tyrosine kinase inhibitors (TKI). Activating EGFR mutations that are associated with an increased responsiveness to TKIs are: Exon 19 deletion (approximately 45%), Exon 21 L858R (approximately 40-45%), Exon 18 G719X, and Exon 21 L861R. EGFR mutations that are associated with a decreased or lack of responsiveness to TKIs are Exon 20 S768I, and T790M. End of Report
Description:
201 Route 17 North Rutherford NJ 07070 Office 201.528.9200 Fax 201.528.9201 www.cancergenetics.com