title: FrequentBRAFV600Emutation has no effect on tumor invasiveness in patients with Langerhans cell histiocytosis.
abstract: The oncogenicBRAFV600Emutation in patients with Langerhans cell histiocytosis (LCH) has recently been reported. However, the reported frequencies were significantly inconsistent and were based on studies of populations of western ethnic origin. The aim of this study was to identify the presence ofBRAFV600Emutation in a cohort of Chinese LCH patients and to determine its association with clinicopathological characteristics. Blocks were retrieved from 52 LCH patients and 12 samples were obtained from blood or bone marrow. These were tested forBRAFV600Eby directly sequencing the entire exon 15 of theBRAFgene. To demonstrate the relationship betweenBRAFV600Eand invasiveness of LCH, the single or multiple systems classification was used.BRAFV600Ewas the only genetic abnormality within exon 15 of theBRAFgene in patients with LCH. Its incidence was 56%, similar to that reported in a United States study, but higher than that reported in German studies. Additionally, the frequencies were similar between patients with single system diseases and those with multiple system diseases. Results of this study showed thatBRAFV600Ewas present in a large number of the Chinese LCH patients, confirming the neoplastic nature of LCH. The frequency was similar to that of the USA study but distinctly higher than that from the Europe studies. No additional mutation were identified besidesBRAFV600E. This mutation did not closely correlate with clinical severity or classification. The finding ofBRAFV600Ein LCH has important implications for both molecular diagnosis and targeted personalized therapy.
authors.affiliation: Departments of Radiation Therapy, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
authors.forename: Rui
authors.initials: R
authors.lastname: Wei
authors.affiliation: Ultrasonography, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
authors.forename: Zhongqing
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Haematology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
authors.forename: Xiaolin
authors.initials: X
authors.lastname: Li
authors.affiliation: Haematology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
authors.forename: Yigang
authors.initials: Y
authors.lastname: Shu
authors.affiliation: Haematology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
authors.forename: Bin
authors.initials: B
authors.lastname: Fu
keywords: BRAF mutation; Chinese; Langerhans cell histiocytosis; classification