The somatic affairs of BRAF: tailored therapies for advanced malignant melanoma and orphan non-V600E (V600R-M) mutations
The somatic affairs of BRAF: tailored therapies for advanced malignant melanoma and orphan non-V600E (V600R-M) mutations
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BRAF 的躯体事务：针对晚期恶性黑色素瘤和孤儿非 V600E (V600R-M) 突变的定制疗法
DOI：
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发表时间：
2013
影响因子：
3.4
通讯作者：
G. Luppi
中科院分区：
文献类型：
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作者：
G. Ponti;G. Pellacani;A. Tomasi;F. Gelsomino;A. Spallanzani;R. Depenni;S. Al Jalbout;L. Simi;L. Garagnani;S. Borsari;A. Conti;C. Ruini;A. Fontana;G. Luppi
BRAF V600R-M-D是罕见的突变，不包括在BRAF选择性抑制剂的实验方案中。我们报告了黑色素瘤中不同类型的BRAF体细胞突变之间的相关性的评估以及BRAF抑制剂的处理。在摩德纳大学，21名患有BRAF突变的转移性黑色素瘤的患者参加了BRAF抑制剂的同情性使用方案。19例患者发现热点V600E突变。在2例黑色素瘤中发现V600R突变和双(V600E-V600M)突变。其中一例发现V600K突变。注意到两项筛查失败。平均无进展生存时间为8周，为7.6个月。5名患者的随访时间非常短，实验方案仍在进行中，因此我们无法提供完整的随访数据。然而，所有这些人仍在接受治疗，疾病没有进展。所有患者均观察到客观有效，副作用少。以测试药物敏感性为目的的体外研究。
BRAF V600R-M-D are uncommon mutations, not included in the experimental protocols of BRAF selective inhibitors. We report the evaluation of correlations among different types of BRAF somatic mutations in melanoma and their management with BRAF inhibitors. 21 patients with BRAF mutated metastatic melanoma were enrolled in the protocol with BRAF inhibitors for compassionate use at the University of Modena. Hot spot V600E mutations were found in 19 patients. V600R mutation and double (V600E -V600M) mutation were identified in two melanomas. In one case, V600K mutation was found. Two screening failures were noted. Mean progression free survival at follow-up of to 8 weeks, was 7.6 months. Five patients had a very short follow-up and the experimental protocol is still ongoing, so we cannot provide complete follow-up data. However, all of them are still under treatment and disease progression free. An objective response with few side effects was observed in all patients. in vitro studies with the aim of testing drug sensitivity.
影响因子：
11.2
作者：
Shi H;Kong X;Ribas A;Lo RS
通讯作者：
Lo RS
影响因子：
45.3
作者：
Janku, Filip;Wheler, Jennifer J.;Kurzrock, Razelle
通讯作者：
Kurzrock, Razelle