We present a case of combined large cell neuroendocrine carcinoma (LCNEC), harbouring a BRAF V600E mutation, which significantly benefited from BRAF-targeted therapy. A 57-year-old woman was referred to our hospital for headache and vomiting. A head MRI showed a large tumour in her brain, and a whole-body CT revealed a tumour in the hilum of the right lung and mediastinal lymphadenopathies. Both the resected brain tumour and the mediastinal lymph node tissue contained LCNEC. Next-generation sequencing revealed a BRAF V600E mutation, and a combination therapy with dabrafenib and trametinib was initiated. The patient had a good response to treatment. Like non-small cell lung cancer patients, LCNEC patients should undergo multiplex somatic mutation testing.
Keywords: genetic screening / counselling; lung cancer (oncology).
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