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Testing for BRAF fusions in patients with advanced BRAF/NRAS/KIT wild-type melanomas permits to identify patients who could benefit of anti-MEK targeted therapy.

对晚期BRAF/NRAS/KIT野生型黑色素瘤患者进行BRAF融合检测,可以确定可受益于抗MEK靶向治疗的患者。

  • 影响因子:2.10
  • DOI:10.1136/jclinpath-2019-206026
  • 作者列表:"Le Flahec G","Briolais M","Guibourg B","Lemasson G","Grippari JL","Ledé F","Marcorelles P","Uguen A
  • 发表时间:2020-02-01
Abstract

:Beyond targeted therapy for patients with BRAF-mutated melanomas and immunotherapy in patients lacking BRAF mutations, anti-MEK therapy has been proposed in patients with advanced melanomas harbouring BRAF fusions. BRAF fusions diagnosis in patients with advanced melanomas is the subject of the present study. Using BRAF fluorescent in situ hybridisation (FISH), we searched for BRAF fusions in 74 samples of 66 patients with advanced BRAF/NRAS/KIT wild-type melanomas. We identified 2/66 (3%) patients with BRAF fusions in a brain metastasis of one patient and in a lymph node metastasis and in a cutaneous metastasis for the second patient with 90%-95% of tumour nuclei containing isolated 3'-BRAF FISH signals. As a result, we conclude that BRAF FISH in patients with advanced BRAF/NRAS/KIT wild-type melanomas is a valuable and easy-to-perform test to diagnose BRAF fusions and to identify patients who could benefit of anti-MEK targeted therapy.

摘要

: 除了对BRAF突变的黑色素瘤患者进行靶向治疗和对缺乏BRAF突变的患者进行免疫治疗之外,抗MEK治疗已被提出用于患有BRAF融合的晚期黑色素瘤患者。BRAF融合诊断晚期黑色素瘤患者是本研究的主题。使用BRAF荧光原位杂交 (FISH),我们在 66 例晚期BRAF/NRAS/KIT野生型黑色素瘤患者的 74 份样本中搜索了BRAF融合。我们确定了 2/66 (3%) BRAF融合患者在 1 例患者的脑转移和淋巴结转移中,在第二例患者的皮肤转移中,90%-95% 的肿瘤细胞核含有孤立的 3 '-BRAF FISH信号。结果,我们的结论是,BRAF FISH在晚期BRAF/NRAS/KIT野生型黑色素瘤患者中是一种有价值且易于执行的测试,用于诊断BRAF融合并确定可获益的患者。抗MEK靶向治疗。

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皮肤肿瘤方向

皮肤肿瘤是发生在皮肤的细胞增生性疾病,是一种常见病。发生于皮内或皮下组织的新生物,种类很多,临床上分良性肿瘤和恶性肿瘤。恶性肿瘤可以不断增殖,引起转移,威胁生命,称为皮肤癌。

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