SMAD4 Mutation in Small Cell Transformation of Epidermal Growth Factor Receptor Mutated Lung Adenocarcinoma

[摘要] The large screening of exons 18 to 21 of the epidermal growth factor receptor ( EGFR ) gene may lead to the discovery of rare, atypical molecular alterations for which the sensitivity to tyrosine kinase inhibitors (TKIs) remains uncertain. We are reporting a rare exon 18 EGFR mutation (p.E709_710 > D) that confers sensitivity to second-generation EGFR TKI (afatinib), lasting for 1 year. Tumor progression biopsy showed small cell lung cancer transformation, associated with a SMAD4 mutation. Key Points A rare exon 18 epidermal growth factor receptor mutation with sensitivity to afatinib is reported. Small cell transformation was observed at tumor progression. Acquisition of a SMAD4 mutation was observed at tumor progression.

[学科分类] 地质学