医学
外周血单个核细胞
朗格汉斯细胞组织细胞增多症
危险系数
内科学
突变
肿瘤科
前瞻性队列研究
生物标志物
胃肠病学
疾病
病理
免疫学
置信区间
基因
生物
生物化学
体外
作者
Chan‐Juan Wang,Ting Zhu,Chen‐Zi Zhao,Hua Cui,Dong Wang,Zi‐Jing Zhao,Xiao‐Tong Huang,H. Li,Fei‐Fei Liu,Rui Zhang,Zhigang Li,Lei Cui
摘要
Abstract Background The clinical relevance of BRAF ‐V600E alleles in peripheral blood mononuclear cells (PBMCs) and the prognostic impact of the mutants in cell‐free (cf) and PBMC DNAs of Langerhans cell histiocytosis (LCH) have not been fully clarified in pediatric LCH. Methods We retrospectively determined the levels of BRAF ‐V600E mutation in paired plasma and PBMC samples at the time of diagnosis of LCH. Subsequently, we performed a separate or combined analysis of the clinical and prognostic impact of the mutants. Results We assessed B RAF‐ V600E mutation in peripheral blood from 94 patients of childhood LCH. Our data showed that cf BRAF ‐V600E was related to young age, multiple‐system (MS) disease, involvements of organs with high risk, increased risk of relapse, and worse progression‐free survival (PFS) of patients. We also observed that the presence of BRAF ‐V600E in PBMCs at baseline was significantly associated with MS LCH with risk organ involvement, younger age, and disease progression or relapse. The coexisting of plasma (+) /PBMC (+) identified 36.2% of the patients with the worst outcome, and the hazard ratio was more significant than either of the two alone or neither, indicating that combined analysis of the mutation in plasma and PBMCs was more accurate to predict relapse than evaluation of either one. Conclusions Concurrent assessment of BRAF ‐V600E mutation in plasma and PBMCs significantly impacted the prognosis of children with LCH. Further prospective studies with larger cohorts need to validate the results of this study.
科研通智能强力驱动
Strongly Powered by AbleSci AI