在转移性黑色素瘤中，单独使用MEK抑制剂对一种涉及RAF1基因的新型融合的临床反应。
Clinical response under MEK inhibitor alone in metastatic melanoma with a novel fusion involving the RAF1 gene.
作者信息
Boileau Marie, Descarpentries Clotilde, Delzenne Guillaume, Trentesaux Victorine, Greliak Anna, Jamme Philippe, Marchetti Philippe, Mortier Laurent
机构信息
Department of Dermatology, Service de Dermatologie, Hôpital C. Huriez, CHU de Lille.
Department of Medicine, Université de Lille.
出版信息
Melanoma Res. 2023 Jun 1;33(3):247-251. doi: 10.1097/CMR.0000000000000882. Epub 2023 Mar 3.
Currently, in the absence of BRAFV600 mutation, the management of advanced melanomas is based on immunotherapies, but only half of the patients are responders. RAF1 (also named CRAF) fusions occur in 1-2.1% of wild-type melanomas. Preclinical data suggest that the presence of RAF fusion may be sensitive to MEK inhibitors. We report the case of a patient with an advanced melanoma harboring an EFCC1-RAF1 fusion who showed a clinical benefit from and a partial response to a MEK inhibitor.
目前，在不存在BRAFV600突变的情况下，晚期黑色素瘤的治疗基于免疫疗法，但只有一半的患者有反应。RAF1（也称为CRAF）融合出现在1%-2.1%的野生型黑色素瘤中。临床前数据表明，RAF融合的存在可能对MEK抑制剂敏感。我们报告了一例晚期黑色素瘤患者的病例，该患者携带EFCC1-RAF1融合基因，对MEK抑制剂显示出临床获益并出现部分缓解。
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