Thoracic SMARCA4-deficient undifferentiated tumor

Q4 Medicine Radiology Case Reports Pub Date : 2025-03-24 DOI:10.1016/j.radcr.2025.02.109
Yukina Izumi , Yuko Sano , Kaori Yamada , Yusuke Ichijo , Mariko Yoshida , Yuka Nishioka , Natsuki Imoto , Tatsuya Imabayashi , Kazuki Jinno , Yoji Urata , Katsumi Hayakawa
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Abstract

Thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is characterized by an undifferentiated rhabdoid morphology and SMARCA4 deficiency pathologically. In the 2021 revision of the WHO classification, it was categorized as an epithelial tumor because of its shared genetic background with smoking-related lung cancer.
We describe the case of a 44-year-old man with a rapidly enlarging mediastinal mass observed on chest radiography and CT. The tumor was resistant to radiation therapy, chemotherapy, and immune checkpoint inhibitors, and the patient's survival time was approximately 5 months. Familiarity with the clinical background and imaging findings of thoracic SMARCA4-UT is crucial for early diagnosis and treatment planning.
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胸部缺乏smarca4的未分化肿瘤
胸部SMARCA4缺失性未分化肿瘤(SMARCA4-UT)的特征是未分化横纹肌样形态和病理上的SMARCA4缺失。在 2021 年修订的世卫组织分类中,它被归类为上皮性肿瘤,因为它与吸烟相关的肺癌具有共同的遗传背景。我们描述了一例 44 岁男性病例,他在胸部放射摄影和 CT 中观察到纵隔肿块迅速增大。肿瘤对放疗、化疗和免疫检查点抑制剂均有耐药性,患者的生存时间约为 5 个月。熟悉胸部 SMARCA4-UT 的临床背景和影像学发现对于早期诊断和治疗计划至关重要。
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来源期刊
Radiology Case Reports
Radiology Case Reports Medicine-Radiology, Nuclear Medicine and Imaging
CiteScore
1.10
自引率
0.00%
发文量
1074
审稿时长
30 days
期刊介绍: The content of this journal is exclusively case reports that feature diagnostic imaging. Categories in which case reports can be placed include the musculoskeletal system, spine, central nervous system, head and neck, cardiovascular, chest, gastrointestinal, genitourinary, multisystem, pediatric, emergency, women''s imaging, oncologic, normal variants, medical devices, foreign bodies, interventional radiology, nuclear medicine, molecular imaging, ultrasonography, imaging artifacts, forensic, anthropological, and medical-legal. Articles must be well-documented and include a review of the appropriate literature.
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