Lung Adenocarcinoma with Pulmonary Miliary Metastases and Complex Somatic Heterozygous EGFR Mutation.
The pretreatment detection of an activating mutation of EGFR is now routinely performed in metastatic nonsquamous non-small cell lung cancer (NSCLC). The therapeutic impact of such a detection is major, as patients with advanced NSCLC exhibiting a mutation of exon 19 or 21 will benefit from EGFR-tyrosine kinase inhibitors (TKI). The presence of an EGFR resistance mutation, such as T790M in EGFR-TKI-naïve patients, is seldom looked for and is related either to a germinal mutation or to somatically mutated subclones. It has a negative predictive impact. We present the case of a patient with a lung papillary adenocarcinoma and miliary intrapulmonary metastases whose tumor displays a somatic complex heterozygous EGFR mutation, combining L858R (exon 21) and a primary resistance mutation T790M (exon 20), both detected by direct sequencing.
Department of Chest Diseases, University Hospital of Strasbourg, Strasbourg, France.
Alexandre
A
Schaller
Department of Molecular Biology, University Hospital of Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
Michèle
M
Beau-Faller
Department of Chest Diseases, University Hospital of Strasbourg, Strasbourg, France.
Bertrand
B
Mennecier
Department of Chest Diseases, University Hospital of Strasbourg, Strasbourg, France.
Benjamin
B
Renaud-Picard
Department of Pathology, University Hospital of Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
Noëlle
N
Weingertner
Department of Thoracic Surgery, University Hospital of Strasbourg, Strasbourg, France.
Gilbert
G
Massard
Department of Chest Diseases, University Hospital of Strasbourg, Strasbourg, France.
Elisabeth
E
Quoix
EGFR mutations; EGFR-tyrosine kinase inhibitor primary resistance; Lung adenocarcinoma; Lung miliary metastases; Non-small cell lung cancer