Molecular Pathology Laboratory Network

EGFR Mutation Comprehensive Analysis Exon 18-21

Test Code
P EGFR
Test Synonyms
ERBB1
Associations
NSCLC,Non Small-cell Lung Cancer,Response to EGFR tyrosine kinase inhibitors; Gefitinib Erlotinib, IRESSA, Tarceva Responsiveness in NSCLC
Methodology
Real-time Polymerase chain reaction for exon 18-21.
EGFR mutation is a referred test.
CPT Codes
83907 - Lysis of cells paraffin block
83900 x2 - Amplification first two nucleic acid sequences
83901 x18 - Amplification first two nucleic acid sequences
83891 - Molecular isolation
83896 x29 - Nucleic acid probe each
83898 x6 - Amplification each nucleic acid sequence
88381 - Microdissection manual
83914 x29 - Mutation identification
83912-26 - interpretation and report
Turnaround Time
12 days
Specimen Requirements
  • Formalin fixed paraffin embedded tissue
  • Unstained slides
  • Fine needle aspirate
    Include surgical pathology report
Specimen Stability
Blocks and slides indefinitely at room temperature
Storage & Handling
Ship ambient. In extreme hot weather, ship with a cool pack.
Causes for Rejection
Inadequate fixation; Improper labeling; frozen specimen
Reference Range
Exon 19 deletions and exon 21 L858R mutations account for ~90% of all mutations in NSCLC and support sensitivity to EGFR tyrosine kinase inhibitor treatment.
The remaining ~10% of mutations on exon 18-21 have limited data to support sensitvity or resistance to EGFR tyrosine kinase inhibitors.
Description
The EGFR (epidermal growth factor receptor) mutation test in conjunction with other clincial data predicts prognosis in lung cancer and response to therapy. EGFR mutation is significantly associated with response to gefitinib and erlotinib and prolonged survival in NSCLC patients.
EGFR mutations have been shown to increase the sensitivity and affinity to tyrosine kinase inhibitors and hold the most promise as a marker and predictor of prognosis in Lung cancer. NSCLC patients treated with tyrosine kinase inhibitors had a slower cancer progression than patients without the mutation.
References
  1. Cappuzzo F, Finocchiaro G, Metro G, et al. (2006)Clinical experience with gefitinib: an update. Crit Rev Oncol Hematol 58:31-45
  2. Paez JG, Janne PA, Lee JC, et al. (2004) EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 304:1497-500
  3. Sequist LV, Joshi VA, Janne PA, et al. (2007) Response to treatment and survival of patients with non-small cell lung cancer undergoing somatic EGFR mutation testing. Oncologist 12:90-8
  4. Ji H, Li D, Chen L, et al.(2006) The impact of human EGFR kinase domain mutations on lung tumorigenesis and in vivo sensitivity to EGFR-targeted therapies.Cancer Cell.9:485-95

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