@article {Jouenne1901190，作者= {JOUENNE，番{\ 'E}谎言和Chevret，西尔维和Bugnet，艾曼纽和Clappier，艾曼纽和Lorillon，Gwena {\“E} L和Meignin，V {\' E} ronique和Sadoux，奥尔{\ 'E}谎言和Cohen，Shannon和Haziot，阿兰和操作工具，亚历山大和Kannengiesser，卡罗琳和Lebb {\' E}，C {\'E}东帝汶和Gossot，多米尼克和Mourah，萨米亚和塔齐，杜勒拉蒂夫}，标题= {具有肺部受累成人朗格汉斯细胞组织细胞增生症}，体积的遗传景观= {55}，数= {2}，elocation-ID = {1901190}，年= {2020}，DOI = {10.1183 / 13993003.01190-2019}，出版商= {欧洲呼吸协会188bet官网地址}，抽象= {在成人朗格汉斯细胞组织细胞增生症的BRAFV600E突变（LCH），包括肺朗格汉斯细胞组织细胞增生症（PLCH）的临床意义，还不是很清楚，类似地，参与成人LCH分子改变的频谱尚未完全划定。为了解决这些问题，我们进行基因分型有大量的成人LCH活检和搜索编为（36.4年56位女性，38多系统疾病，79单一系统疾病，65名目前吸烟者中位年龄）进行基因分型与从117名成年患者LCH，83与PLCH临床表现和疾病outcome.Biopsies识别分子改变的关联在BRAFV600E突变。在69例，LCH病灶也利用全外显子组测序（WES）或靶向基因面板下一代测序（NGS）进行基因分型。Cox模型被用来估计与在59中检测出69例（86 \％）（BRAFV600E突变的LCH progression.MAPK途径改变的危险的基线特征的关联：36 \％，BRAFN486_P490缺失：28 \％，MAP2K1突变：15 \％，分离NRASQ61突变：4 \％），而KRAS突变是在PLCH病变几乎不存在。 The BRAFV600E mutation was not associated with LCH presentation at diagnosis, including smoking status and lung function, in PLCH patients. BRAFV600E status did not influence the risk of LCH progression over time.Thus, MAPK alterations are present in most lesions from adult LCH patients, particularly in PLCH. Unlike reports in paediatric LCH, BRAFV600E genotyping did not provide additional information on disease outcome. The search for alterations involved in the MAPK pathway, including BRAF deletions, is useful for guiding targeted treatment in selected patients with refractory progressive LCH.MAPK alterations are present in most lesions from adult pulmonary LCH patients. In patients with refractory progressive disease, the identification of these alterations, including BRAF deletions, is important to guide the choice of targeted treatment. http://bit.ly/2Qoknsn}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/55/2/1901190}, eprint = {//www.qdcxjkg.com/content/55/2/1901190.full.pdf}, journal = {European Respiratory Journal} }