The co-occurrence of two or more rare variants, known as compound variants, is rare in non-small cell lung carcinoma with epidermal growth factor receptor ( EGFR ) variants, and the compound variant L833V/H835L in exon 21 of EGFR is extremely rare. There is very little evidence regarding its treatment. Herein, we report a case of an advanced lung adenocarcinoma patient with cutaneous metastases. Next generation sequencing detected a combination variant of EGFR exon 21 L833V/H835L. To our surprise, our patient had almost complete remission of skin symptoms after 1 month of oral gefitinib (250 mg/d qd) treatment with less skin toxicity. At the time of this report submission, the last CT scan confirmed that the patient had achieved partial response. To date, the patient has achieved a remarkable result with a progression-free survival of 18 + months. The presentation of this case and a literature review suggest that tailored therapeutic interventions are available for this subset of patients. Highlights • NSCLC with EGFR exon 21 L833V/H835L compound mutations are rare. • Gefitinib was effective against L833V/H835L compound mutation. • Tailored therapeutic interventions for rare compound variants may be an option. • Establishment of a database of rare variants is necessary for patient management. Non-small cell lung cancer; Epidermal growth factor receptor; Compound variants; L833V/H835L; Gefitinib.
【저자키워드】 Non-small cell lung cancer, epidermal growth factor receptor, gefitinib, Compound variants, L833V/H835L,