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SMARCA4‐deficient lung tumour that presented with haemoptysis and progressed rapidly

The case of a heavy ex‐smoking man in his early 70s who presented with haemoptysis and died following rapid progression is presented. The tumour excised by surgery was mostly composed of monotonous large rhabdoid cells showing prominent nucleoli and eosinophilic cytoplasm. On immunohistochemistry wi...

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Detalles Bibliográficos
Autores principales: Inoue, Mari, Enomoto, Tatsuji, Kawamoto, Masashi, Mikami, Naoto, Kuribayashi, Hidehiko, Saeki, Noriyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7457343/
https://www.ncbi.nlm.nih.gov/pubmed/32884816
http://dx.doi.org/10.1002/rcr2.656
Descripción
Sumario:The case of a heavy ex‐smoking man in his early 70s who presented with haemoptysis and died following rapid progression is presented. The tumour excised by surgery was mostly composed of monotonous large rhabdoid cells showing prominent nucleoli and eosinophilic cytoplasm. On immunohistochemistry with SMARCA4 (BRG‐1), the tumour cells showed significant loss of expression. The tumour was diagnosed as a SMARCA4‐deficient thoracic sarcoma. This is a disease that progresses rapidly and has a poor prognosis. However, the search for specific treatments using synthetic lethality is underway. Clinical and pathological characteristics can be identified with examination of more cases, and when the tumour is suspected, it is necessary to actively perform immunohistochemical examination.