@article {Mourah1785作者= {Mourah,赛米亚How-Kit,亚历山大和Meignin V {\ ' e} ronique Gossot,多米尼克•和Lorillon Gwena {\ " e},用来称呼防虫罩的词Emmanuelle Mauger,佛罗伦萨和Lebbe,天蓝色和Chevret,西尔维,烤面包,J {\ " o} rg和塔子,Abdellatif}、标题={复发国家管制当局方面的突变肺朗格汉斯细胞组织细胞增生症},体积={47}={6},页面= {1785 - 1796}= {2016},doi ={10.1183/13993003.01677 -2015},出版商={欧洲呼吸学会},文摘={增殖激活蛋白激酶(MAPK)途径是不断在朗格汉斯细胞组织细胞增生症(LCH)。188bet官网地址下游激酶BRAF突变和MAP2K1调解这个激活禄病变的一个子集。在这项研究中,我们试图确定其他突变可能解释不变异的MAPK激活BRAF和MAP2K1禄病变。我们分析了26个肺和37 nonpulmonary禄存在BRAF病变,MAP2K1,国家管制当局方面,KRAS突变。非常正常的肺组织从10吸烟者病人被用作控制。病人并发自发的结果评估。BRAFV600E突变被发现在50 \ %和38 \ %的肺和nonpulmonary禄病变,分别。40 \ %的肺禄病变怀有NRASQ61K / R突变,而没有国家管制当局方面的突变中确定nonpulmonary禄在肺组织活检或控制。在七11 NRASQ61K / R-mutated肺禄病变,BRAFV600E突变也在场。单独的基因每个CD1a-positive区域相同的肺禄损伤表明,这些并发BRAF和国家管制当局方面的变异是由不同的细胞克隆。NRASQ61K / R突变激活MAPK和AKT通路(蛋白激酶B)。 In the univariate analysis, the presence of concurrent BRAFV600E and NRASQ61K/R mutations was significantly associated with patient outcome.These findings highlight the importance of NRAS genotyping of pulmonary LCH lesions because the use of BRAF inhibitors in this context may lead to paradoxical disease progression. These patients might benefit from MAPK kinase inhibitor-based treatments.Pulmonary Langerhans cell histiocytosis genetic landscape includes recurrent activating NRAS Q61 mutations http://ow.ly/YgsSm}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/47/6/1785}, eprint = {//www.qdcxjkg.com/content/47/6/1785.full.pdf}, journal = {European Respiratory Journal} }