TY - JOUR T1 - 欧洲呼吸杂志JO - - 欧洲呼吸j执行 - 10.1183 / 13993003.01190-2019 VL - 与肺部受累JF成人朗格汉斯细胞组织细胞增生症的遗传景观55 - 2 SP - 1901190 AU - JOUENNE，FanélieAU - Chevret，西尔维AU - Bugnet，艾曼纽AU - Clappier，艾曼纽AU - Lorillon，GwenaëlAU - Meignin，维罗尼卡AU - Sadoux，的AurélieAU - 科恩，香农AU - Haziot，阿兰AU - 如何-KIT，亚历山大AU - Kannengiesser，卡罗琳AU -Lebbé，蔚AU - Gossot，多米尼克AU - Mourah，萨米亚AU - 塔齐，阿卜杜勒 - 拉蒂夫·Y1 - 2020年2月1日UR - //www.qdcxjkg.com/content/55/2/1901190.abstract N2 - 临床成人朗格汉斯细胞组织细胞增生症（LCH）的BRAFV600E突变，包括肺郎格罕组织细胞增生症（PLCH）的意义，还不是很清楚。同样，参与成人LCH分子改变的频谱尚未完全划定。To address these issues, we genotyped a large number of adult LCH biopsies and searched for an association of identified molecular alterations with clinical presentation and disease outcome.Biopsies from 117 adult LCH patients, 83 with PLCH (median age 36.4 years, 56 females, 38 multisystem disease, 79 single system disease, 65 current smokers) were genotyped for the BRAFV600E mutation. In 69 cases, LCH lesions were also genotyped by whole-exome sequencing (WES) or targeted gene panel next-generation sequencing (NGS). Cox models were used to estimate the association of baseline characteristics with the hazard of LCH progression.MAPK pathway alterations were detected in 59 out of 69 cases (86%) (BRAFV600E mutation: 36%, BRAFN486_P490 deletion: 28%, MAP2K1 mutations: 15%, isolated NRASQ61 mutations: 4%), while KRAS mutations were virtually absent in PLCH lesions. 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 ER -