NDLI: Frequent BRAF V600E mutation has no effect on tumor invasiveness in patients with Langerhans cell histiocytosis

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Year: 2013, Volume: 1, Issue: 2

Year: 2013, Volume: 1, Issue: 1

Year: 2012, Volume: 1

Frequent BRAF V600E mutation has no effect on tumor invasiveness in patients with Langerhans cell histiocytosis

Content Provider	PubMed Central
Author	Wei, Rui Wang, Zhongqing Li, Xiaolin Shu, Yigang Fu, Bin
Copyright Year	2013
Abstract	The oncogenic BRAF V600E mutation 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 of BRAF V600E mutation 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 for BRAF V600E by directly sequencing the entire exon 15 of the BRAF gene. To demonstrate the relationship between BRAF V600E and invasiveness of LCH, the single or multiple systems classification was used. BRAF V600E was the only genetic abnormality within exon 15 of the BRAF gene 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 that BRAF V600E was 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 besides BRAF V600E. This mutation did not closely correlate with clinical severity or classification. The finding of BRAF V600E in LCH has important implications for both molecular diagnosis and targeted personalized therapy.
Related Links	http://dx.doi.org/10.3892/br.2013.62
Starting Page	365
File Format	PDF
ISSN	20499434
e-ISSN	20499442
Journal	Biomedical Reports
Issue Number	3
Volume Number	1
Language	English
Publisher	D.A. Spandidos
Publisher Date	2013-01-01
Access Restriction	Open
Rights Holder	D.A. Spandidos
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Neuroscience Medicine Biochemistry, Genetics and Molecular Biology Pharmacology, Toxicology and Pharmaceutics

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