Open AccessSMAD4 Mutation in Small Cell Transformation of Epidermal Growth Factor Receptor Mutated Lung Adenocarcinoma
Author(s) -
D'Haene Nicky,
Le Mercier Marie,
Salmon Isabelle,
Mekinda Zita,
Remmelink Myriam,
Berghmans Thierry
Publication year - 2019
Publication title -
the oncologist
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.176
H-Index - 164
eISSN - 1549-490X
pISSN - 1083-7159
DOI - 10.1634/theoncologist.2018-0016
Subject(s) - afatinib , epidermal growth factor receptor , cancer research , exon , mutation , medicine , gefitinib , lung cancer , tyrosine kinase , epidermal growth factor , adenocarcinoma , malignant transformation , cancer , receptor , pathology , biology , gene , genetics
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.