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 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 whol...

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Autores principales: Sakamoto, Tomohiro, Arai, Katsunori, Makishima, Karen, Yamasaki, Akira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8719127/
https://www.ncbi.nlm.nih.gov/pubmed/34969785
http://dx.doi.org/10.1136/bcr-2021-243295
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author Sakamoto, Tomohiro
Arai, Katsunori
Makishima, Karen
Yamasaki, Akira
author_facet Sakamoto, Tomohiro
Arai, Katsunori
Makishima, Karen
Yamasaki, Akira
author_sort Sakamoto, Tomohiro
collection PubMed
description 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.
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spelling pubmed-87191272022-01-12 BRAF V600E-mutated combined large cell neuroendocrine carcinoma and adenocarcinoma responding to targeted therapy Sakamoto, Tomohiro Arai, Katsunori Makishima, Karen Yamasaki, Akira BMJ Case Rep Case Report 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. BMJ Publishing Group 2021-12-30 /pmc/articles/PMC8719127/ /pubmed/34969785 http://dx.doi.org/10.1136/bcr-2021-243295 Text en © BMJ Publishing Group Limited 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) .
spellingShingle Case Report
Sakamoto, Tomohiro
Arai, Katsunori
Makishima, Karen
Yamasaki, Akira
BRAF V600E-mutated combined large cell neuroendocrine carcinoma and adenocarcinoma responding to targeted therapy
title BRAF V600E-mutated combined large cell neuroendocrine carcinoma and adenocarcinoma responding to targeted therapy
title_full BRAF V600E-mutated combined large cell neuroendocrine carcinoma and adenocarcinoma responding to targeted therapy
title_fullStr BRAF V600E-mutated combined large cell neuroendocrine carcinoma and adenocarcinoma responding to targeted therapy
title_full_unstemmed BRAF V600E-mutated combined large cell neuroendocrine carcinoma and adenocarcinoma responding to targeted therapy
title_short BRAF V600E-mutated combined large cell neuroendocrine carcinoma and adenocarcinoma responding to targeted therapy
title_sort braf v600e-mutated combined large cell neuroendocrine carcinoma and adenocarcinoma responding to targeted therapy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8719127/
https://www.ncbi.nlm.nih.gov/pubmed/34969785
http://dx.doi.org/10.1136/bcr-2021-243295
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AT makishimakaren brafv600emutatedcombinedlargecellneuroendocrinecarcinomaandadenocarcinomarespondingtotargetedtherapy
AT yamasakiakira brafv600emutatedcombinedlargecellneuroendocrinecarcinomaandadenocarcinomarespondingtotargetedtherapy

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