Inoue Mari, Enomoto Tatsuji, Kawamoto Masashi, Mikami Naoto, Kuribayashi Hidehiko, Saeki Noriyuki
Department of Respiratory Disease Center Ofuna Chuo Hospital Kamakura Japan.
Department of Diagnostic Pathology Teikyo University Hospital, Mizonokuchi Kawasaki Japan.
Respirol Case Rep. 2020 Aug 31;8(7):e00656. doi: 10.1002/rcr2.656. eCollection 2020 Oct.
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.
本文报告了一例70岁出头的重度戒烟男性病例，该患者出现咯血症状，并在病情迅速进展后死亡。手术切除的肿瘤主要由单一的大横纹肌样细胞组成，这些细胞显示出明显的核仁及嗜酸性细胞质。在使用SMARCA4（BRG-1）进行免疫组织化学检测时，肿瘤细胞显示出明显的表达缺失。该肿瘤被诊断为SMARCA4缺陷型胸段肉瘤病种。这是一种进展迅速且预后不良的疾病。然而，目前正在探索利用合成致死性进行特异性治疗。通过检查更多病例可以确定临床和病理特征，当怀疑有该肿瘤时，有必要积极进行免疫组织化学检查。
