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携带罕见表皮生长因子受体(EGFR)突变的SMARCA4缺陷型非小细胞肺癌患者接受阿法替尼治疗后显示出显著的肿瘤反应:一例报告

Non small cell lung cancer with SMARCA4 deficiency harboring rare EGFR mutations exhibited significant tumor response when treated with afatinib: a case report.

作者信息

Qiu Xiaotong, You Liangkun, Wang Chongwei, Sheng Jin

机构信息

Department of Medical Oncology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310016, China.

Department of Pathology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310016, China.

出版信息

Front Med. 2025 Feb;19(1):170-173. doi: 10.1007/s11684-024-1118-y. Epub 2025 Jan 14.

Abstract

SMARCA4-deficient non small cell lung cancer (SMARCA4-dNSCLC) has recently garnered increasing attention due to its high malignancy and poor prognosis. The literature suggests that in non small cell lung cancer (NSCLC), the loss of SMARCA4 frequently co-occurs with mutations in KRAS, KEAP1, and STK11 rather than in EGFR, ALK, and ROS1. Herein, we present the first documented case of SMARCA4-dNSCLC accompanied with rare mutations of EGFR exon 20 S768I and exon 18 G719X. The patient achieved partial response with afatinib for 17 months. Our case highlights the importance of EGFR mutations in the precision targeted treatment of SMARCA4-dNSCLC.

摘要

SMARCA4缺陷型非小细胞肺癌(SMARCA4-dNSCLC)因其高恶性和预后不良,近来受到越来越多的关注。文献表明,在非小细胞肺癌(NSCLC)中,SMARCA4缺失常与KRAS、KEAP1和STK11突变同时出现,而非与EGFR、ALK和ROS1突变同时出现。在此,我们报告首例有记录的伴有EGFR外显子20 S768I和外显子18 G719X罕见突变的SMARCA4-dNSCLC病例。该患者使用阿法替尼治疗后获得了17个月的部分缓解。我们的病例突出了EGFR突变在SMARCA4-dNSCLC精准靶向治疗中的重要性。

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