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EGFR
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Interpretation 132
Tier 1
EGFR
Variants
EGFR L861Q
EGFR codon(s) 861 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions , EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. The L861Q mutation is one of the less common mutations which is an activating mutation that is believed to confer sensitivity to the targeted EGFR tyrosine kinase inhibitors although this mutation may confer reduced response to these inhibitors compared to the more common mutations.

Citations
  1. Chiu CH, Yang CT, Shih JY, Huang MS, Su WC, Lai RS, Wang CC, Hsiao SH, Lin YC, Ho CL, Hsia TC, Wu MF, Lai CL, Lee KY, Lin CB, Yu-Wung Yeh D, Chuang CY, Chang FK, Tsai CM, Perng RP, Chih-Hsin Yang J. Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor Treatment Response in Advanced Lung Adenocarcinomas with G719X/L861Q/S768I Mutations. J Thorac Oncol. 2015 May;10(5):793-9. doi: 10.1097/JTO.0000000000000504. PubMed PMID: 25668120.
  2. Sequist LV et al., First-Line Gefitinib in Patients With Advanced Non–Small-Cell Lung Cancer Harboring SomaticEGFR Mutations J. Clin. Oncol , 2008, 26, 2442-2449
  3. Pao W, et al. EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib. Proc Natl Acad Sci USA. 2004;101:13306–13311
  4. Watanabe S, Minegishi Y, Yoshizawa H, Maemondo M, Inoue A, Sugawara S, Isobe H, Harada M, Ishii Y, Gemma A, Hagiwara K, Kobayashi K. Effectiveness of gefitinib against non-small-cell lung cancer with the uncommon EGFR mutations G719X and L861Q. J Thorac Oncol. 2014 Feb;9(2):189-94. doi: 10.1097/JTO.0000000000000048. PubMed PMID: 24419415; PubMed Central PMCID: PMC4132025.
  5. Afatinib
  6. Erlotinib
  7. Gefitinib
Last updated: 2018-04-06 15:03:01 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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