携带罕见EGFR突变的SMARCA4缺乏症的非小细胞肺癌在使用阿法替尼治疗时表现出显著的肿瘤反应：一份病例报告。

IF 3.9 3区医学 Q2 MEDICINE, RESEARCH & EXPERIMENTAL

Frontiers of Medicine Pub Date : 2025-01-14 DOI:10.1007/s11684-024-1118-y

Xiaotong Qiu, Liangkun You, Chongwei Wang, Jin Sheng

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引用次数: 0

摘要

smarca4缺陷型非小细胞肺癌（SMARCA4-dNSCLC）因其恶性程度高、预后差，近年来受到越来越多的关注。文献表明，在非小细胞肺癌（NSCLC）中，SMARCA4的缺失通常与KRAS、KEAP1和STK11的突变共同发生，而不是与EGFR、ALK和ROS1的突变共同发生。本文中，我们报道了首例伴有EGFR外显子20 S768I和18 G719X罕见突变的SMARCA4-dNSCLC病例。患者在使用阿法替尼17个月后获得部分缓解。我们的病例强调了EGFR突变在精确靶向治疗SMARCA4-dNSCLC中的重要性。

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

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.

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来源期刊

Frontiers of Medicine ONCOLOGYMEDICINE, RESEARCH & EXPERIMENTAL&-MEDICINE, RESEARCH & EXPERIMENTAL

CiteScore

18.30

自引率

0.00%

发文量

800

期刊介绍： Frontiers of Medicine is an international general medical journal sponsored by the Ministry of Education of China. The journal is jointly published by the Higher Education Press and Springer. Since the first issue of 2010, this journal has been indexed in PubMed/MEDLINE. Frontiers of Medicine is dedicated to publishing original research and review articles on the latest advances in clinical and basic medicine with a focus on epidemiology, traditional Chinese medicine, translational research, healthcare, public health and health policies.