Combined BRAF G469A mutation and echinoderm microtubule associated protein like-4-anaplastic lymphoma kinase rearrangement with resistance: A case report and review of literature.

IF 3.2 Q3 ONCOLOGY World journal of clinical oncology Pub Date : 2025-02-24 DOI:10.5306/wjco.v16.i2.98812
Xuan Guo, Yan Liu, Yu-Ting Wang, Kan Liu, Hui Ding
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Abstract

Background: Through deeper understanding of targetable driver mutations in non-small-cell lung cancer (NSCLC) over the past years, some patients with driver mutations have benefited from the targeted molecular therapies. Although the anaplastic lymphoma kinase and BRAF mutations are not frequent subtypes in NSCLC, the availability of several targeted-drugs has been confirmed through a series of clinical trials. But little is clear about the proper strategy in rare BRAF G469A mutation, not to mention co-exhibition of anaplastic lymphoma kinase and BRAF G469A mutations, which is extremely rare in NSCLC.

Case summary: We present a patient to stage IVA lung adenocarcinoma with coexisting echinoderm microtubule associated protein like-4 rearrangement and BRAF G469A mutation. She received several targeted drugs with unintended resistance and suffered from unbearable adverse events.

Conclusion: Due to the rarity of co-mutations, the case not only enriches the limited literature on NSCLC harbouring BRAF G469A and echinoderm microtubule associated protein like-4 mutations, but also suggests the efficacy and safety of specific multiple-drug therapy in such patients.

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BRAF G469A突变和棘皮动物微管相关蛋白-4-无性淋巴瘤激酶重排合并耐药:病例报告和文献综述。
背景:随着近年来对非小细胞肺癌(NSCLC)中可靶向驱动突变的深入了解,一些驱动突变患者已经从靶向分子治疗中获益。虽然间变性淋巴瘤激酶和BRAF突变在NSCLC中不是常见的亚型,但通过一系列临床试验已经证实了几种靶向药物的可用性。但对于罕见的BRAF G469A突变的正确策略知之甚少,更不用说间变性淋巴瘤激酶和BRAF G469A突变同时出现,这在NSCLC中极为罕见。病例总结:我们报告了一例伴有棘皮微管相关蛋白like-4重排和BRAF G469A突变的IVA期肺腺癌患者。她接受了几种靶向药物,但意外产生了耐药性,并遭受了难以忍受的不良事件。结论:由于共突变的罕见性,该病例不仅丰富了有限的关于BRAF G469A和棘皮微管相关蛋白样4突变的NSCLC文献,而且提示了对此类患者进行特异性多药治疗的有效性和安全性。
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期刊介绍: The WJCO is a high-quality, peer reviewed, open-access journal. The primary task of WJCO is to rapidly publish high-quality original articles, reviews, editorials, and case reports in the field of oncology. In order to promote productive academic communication, the peer review process for the WJCO is transparent; to this end, all published manuscripts are accompanied by the anonymized reviewers’ comments as well as the authors’ responses. The primary aims of the WJCO are to improve diagnostic, therapeutic and preventive modalities and the skills of clinicians and to guide clinical practice in oncology. Scope: Art of Oncology, Biology of Neoplasia, Breast Cancer, Cancer Prevention and Control, Cancer-Related Complications, Diagnosis in Oncology, Gastrointestinal Cancer, Genetic Testing For Cancer, Gynecologic Cancer, Head and Neck Cancer, Hematologic Malignancy, Lung Cancer, Melanoma, Molecular Oncology, Neurooncology, Palliative and Supportive Care, Pediatric Oncology, Surgical Oncology, Translational Oncology, and Urologic Oncology.
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