A case of radio-insensitive SMARCA4-deficient thoracic undifferentiated carcinoma with severe right heart failure. (2021)

• Record Type: Journal Article
• Authors: Ito, Shotaro; Asahina, Hajime; Yamaguchi, Naoko; Tomaru, Utano; Hasegawa, Tadashi; Hatanaka, Yutaka; Hatanaka, Kanako C.; Taguchi, Hiroshi; Harada, Taisuke; Ohira, Hiroshi; Ikeda, Daisuke; Mizugaki, Hidenori; Kikuchi, Eiki; Kikuchi, Junko; Sakakibara-Konishi, Jun; Shinagawa, Naofumi; Konno, Satoshi
• Is Part Of: Respiratory medicine case reports. Volume 32(2021)
• Publication Date: 2021
• Subjects: SMARCA4-Deficient thoracic undifferentiated carcinoma -- Radiation therapy -- Right heart failure -- SMARCA4 -- Sarcomatoid tumor -- Radio-insensitive; SWI/SNF switch/sucrose non-fermentable -- SD-TSTs SMARCA4-deficient thoracic sarcomatoid tumors -- SMARCA4-DTC SMARCA4-deficient thoracic undifferentiated carcinoma -- ICI Immune checkpoint inhibitors -- ECOG PS Eastern Cooperative Oncology Group performance status; Respiratory organs -- Diseases -- Periodicals; Chest -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory System -- Periodicals; Chest -- Diseases; Respiratory organs -- Diseases; Electronic journals; Periodicals; 616.2
• DOI: 10.1016/j.rmcr.2021.101364
• Languages: English
• ISSNs: 2213-0071

Abstract

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/de-differentiated 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.