TY - T1的遗传景观成人肺朗格汉斯细胞组织细胞增生症与参与摩根富林明-欧洲呼吸杂志》乔和J - 10.1183/13993003.01190 -2019欧元六世- 55 - 2 SP - 1901190 AU Jouenne Fanelie盟——Chevret西尔维盟,用来称呼防虫罩的词之盟,Clappier Emmanuelle盟——Lorillon Gwenael AU - Meignin,薇罗尼卡非盟- Sadoux Aurelie AU -科恩,香农非盟- Haziot阿兰盟——How-Kit Alexandre盟——Kannengiesser卡罗琳盟——Lebbe Celeste盟——Gossot摘要N2 - BRAFV600E突变在成人朗格汉斯细胞组织细胞增多症(LCH)中的临床意义，包括肺朗格汉斯细胞组织细胞增多症(PLCH)，目前尚不清楚。同样，成人LCH中涉及的分子改变的光谱也没有被完全描绘出来。为了解决这些问题，我们对大量成人LCH活组织切片进行基因分型，并寻找已识别的分子改变与临床表现和疾病结果之间的联系。对117例LCH患者(83例中位年龄为36.4岁，56例女性，38例多系统疾病，79例单系统疾病，65例吸烟者)进行了BRAFV600E突变基因分型。在69例病例中，LCH病变也通过全外显子组测序(WES)或靶向基因板下一代测序(NGS)进行基因分型。Cox模型用于评估基线特征与LCH进展危险之间的关系。在69例患者中，有59例(86%)检测到MAPK通路改变(BRAFV600E突变:36%，BRAFN486_P490缺失:28%，MAP2K1突变:15%，分离的NRASQ61突变:4%)，而PLCH病变中几乎没有KRAS突变。在PLCH患者中，BRAFV600E突变与诊断时的LCH表现(包括吸烟状况和肺功能)无关。BRAFV600E状态不影响LCH进展的风险。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 ER -