BRAF V600E-mutated combined large cell neuroendocrine carcinoma and adenocarcinoma responding to targeted therapy

We present a case of combined large cell neuroendocrine carcinoma (LCNEC), harbouring a V600E mutation, which significantly benefited from -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...

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Veröffentlicht in:BMJ case reports 2021-12, Vol.14 (12), p.e243295
Hauptverfasser: Sakamoto, Tomohiro, Arai, Katsunori, Makishima, Karen, Yamasaki, Akira
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Sprache:eng
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Zusammenfassung:We present a case of combined large cell neuroendocrine carcinoma (LCNEC), harbouring a V600E mutation, which significantly benefited from -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 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.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2021-243295