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用阿来替尼治疗的伴有融合的胸段SMARCA4缺陷型未分化肿瘤实现显著肿瘤消退:病例报告

Thoracic SMARCA4-Deficient Undifferentiated Tumor With Fusion Treated With Alectinib Achieved Remarkable Tumor Regression: Case Report.

作者信息

Sheng Jin, Han Weidong, Pan Hongming

机构信息

Department of Medical Oncology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Zhejiang, People's Republic of China.

Key Laboratory of Biotherapy of Zhejiang Province, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Zhejiang, People's Republic of China.

出版信息

JTO Clin Res Rep. 2023 Feb 24;4(4):100476. doi: 10.1016/j.jtocrr.2023.100476. eCollection 2023 Apr.

Abstract

Recently, SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) has emerged as a distinct subset of lung cancer. Previous studies have suggested that SMARCA4-UT is often associated with smoking-related mutations, such as and , rather than or alterations. Nevertheless, no specific precision therapy has been identified for SMARCA4-UT. Here, we report the first case of concomitant rearrangement and SMARCA4 (BRG1) deficiency in a nonsmoking female with thoracic cancer. Alectinib was given as the first-line therapy, and the patient achieved a remarkable complete response. Our case highlights the significance of rearrangement identification for the precise therapeutic potential of SMARCA4-UT.

摘要

最近,SMARCA4缺陷型未分化肿瘤(SMARCA4-UT)已成为肺癌的一个独特亚群。先前的研究表明,SMARCA4-UT通常与吸烟相关的突变有关,如 和 ,而非 或 改变。然而,尚未确定针对SMARCA4-UT的特异性精准治疗方法。在此,我们报告首例非吸烟女性胸段癌患者同时存在 重排和SMARCA4(BRG1)缺陷的病例。给予阿来替尼作为一线治疗,患者取得了显著的完全缓解。我们的病例突出了 重排鉴定对于SMARCA4-UT精确治疗潜力的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdc5/10034452/1778d1076eb3/gr1.jpg

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