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A case of radio-insensitive SMARCA4-deficient thoracic undifferentiated carcinoma with severe right heart failure

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Title: A case of radio-insensitive SMARCA4-deficient thoracic undifferentiated carcinoma with severe right heart failure
Authors: Ito, Shotaro Browse this author
Asahina, Hajime Browse this author
Yamaguchi, Naoko Browse this author
Tomaru, Utano Browse this author
Hasegawa, Tadashi Browse this author
Hatanaka, Yutaka Browse this author
Hatanaka, Kanako C. Browse this author
Taguchi, Hiroshi Browse this author
Harada, Taisuke Browse this author
Ohira, Hiroshi Browse this author
Ikeda, Daisuke Browse this author
Mizugaki, Hidenori Browse this author
Kikuchi, Eiki Browse this author
Kikuchi, Junko Browse this author
Sakakibara-Konishi, Jun Browse this author
Shinagawa, Naofumi Browse this author
Konno, Satoshi Browse this author
Keywords: SMARCA4-Deficient thoracic undifferentiated carcinoma
Radiation therapy
Right heart failure
Sarcomatoid tumor
Issue Date: 2021
Publisher: Elsevier
Journal Title: Respiratory Medicine Case Reports
Volume: 32
Start Page: 101364
Publisher DOI: 10.1016/j.rmcr.2021.101364
Abstract: SMARCA4-deficient thoracic sarcomatoid tumors were characterized by inactivating mutations of SMARCA4 and often found in the chest of young and middle-aged males with a smoking history. Recently, SMARCA4-deficient thoracic sarcomatoid tumors were reported to represent primarily smoking-associated undifferentiated/dedifferentiated carcinomas rather than primary thoracic sarcomas. The main complication of this tumor is compression of the respiratory tract and/or blood vessels. A 39-year-old man presented with a 2-month history of fever and dyspnea. Computed tomography revealed a mediastinal tumor invading the right and left pulmonary arteries. Because of severe right heart failure, we considered him ineligible for bronchoscopy. We scheduled palliative irradiation with 40 Gy/20 Fr to improve hemodynamics and perform endobronchial ultrasound transbronchial needle aspiration later. However, irradiation was ineffective, and his general condition deteriorated quickly and he died after a 7-week hospitalization. An autopsy revealed that the diagnosis was SMARCA4-deficient thoracic undifferentiated carcinoma. It has been reported that this tumor is insensitive to radiotherapy and there were some cases which responded to an immune checkpoint inhibitor. Therefore, when caring for patients with mediastinal tumors that invade and compress the trachea and large vessels, it is important to consider this tumor as a differential diagnosis and try to make a pathological diagnosis as soon as possible.
Type: article
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

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