Diverse responses to EGFR-TKIs in patients with concurrent germline and somatic EGFR mutations

Somatic epidermal growth factor receptor (EGFR) mutations are now routinely integrated in the molecular diagnosis of non-small cell lung cancers (NSCLC). Next generation sequencing with paired blood and tumor tissue enable the simultaneous detecting of germline and somatic EGFR mutations. However, the impact of EGFR germline mutations on response to EGFR tyrosine kinase inhibitors (TKIs) is not well known [1–3]. We report here six patients with concurrent somatic and germline EGFR variants identified with a penal of 1021 cancer-related genes (∼1.4 Mbp) using Gene + Seq 2000 instrument (Geneplus-Beijing, China).