epidermal growth factor receptor (EGFR) gene mutation

Indications

• eligibility for erlotinib in the treatment of non-small cell lung cancer
• useful if KRAS gene mutation is negative

Specimen

• specimen collected from fine needle aspiration
• formalin fixation, parafin embedded
• transport: room temperature or refrigerated
  • frozen is unacceptable

Procedure

• polymerase chain reaction with pyrosequencing
• detects mutations in EGFR exons 18, 19, 20, & 21
• if EGFR gene mutation is negative, consider
  • ALK gene rearrangement
  • ROS1 gene mutation
• if EGFR gene mutation is positive, consider
  • KRAS gene mutation

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• epidermal growth factor receptor; receptor tyrosine-protein kinase ErbB-1 (EGFR, ERBB1, HER1)