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rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our data confirmed presence of the (V600E)B-RAF mutation in LCH granuloma of some patients, and identify two novel B-RAF mutations.
|
22506009 |
2012 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
The high frequency of BRAF(V600E) in LCH and ECD suggests a common origin of these diseases.
|
22879539 |
2012 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although BRAF V600E mutations were recently identified as a recurrent genetic alteration in LCH cases, the clinical significance of this mutation within the heterogeneous spectrum of LCH is also currently unknown.
|
22996177 |
2013 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation.
|
23258922 |
2013 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
In a series of pulmonary (19 cases) and non-pulmonary LCH (19 cases), including five aggressive cases, we investigated occurrence of the BRAF V600E mutation by molecular analysis and/or immunohistochemistry using a validated antibody (VE1).
|
24471909 |
2014 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
BRAF V600E expression in Langerhans cell histiocytosis: clinical and immunohistochemical study on 25 pulmonary and 54 extrapulmonary cases.
|
24625419 |
2014 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
Consistent with our findings in humans, expression of BRAF-V6</span>00E in BM DC progenitors recapitulated many features of the human high-risk LCH, whereas BRAF-V600E expression in differentiated DCs more closely resembled low-risk LCH.
|
24638167 |
2014 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
Localized Langerhans cell histiocytosis of the thymus with BRAF V600E mutation: a case report with immunohistochemical and genetic analyses.
|
24703101 |
2014 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
BRAF(V600E) was not limited to LCH and was detected more frequently in histiocytic sarcoma.
|
24720374 |
2014 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
We found the BRAF(V600E) mutation in 11 (69%) of 16 LCH lesions and in 9 (82%) of 11 ECD lesions.
|
24894769 |
2014 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis.
|
24982505 |
2014 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, activating V600E BRAF mutation can be frequently demonstrated in pediatric LCH by both allele-specific PCR and IHC.
|
25118810 |
2014 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
Patients with Langerhans cell histiocytosis</span> (LCH) and Erdheim-Chester disease (ECD) have a high frequency of BRAF(V600E) mutations and respond to RAF inhibitors.
|
25324352 |
2015 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
All patients were refractory to first-line treatment and harbored a BRAF(V600E) mutation.Four patients also had LCH lesions.
|
25422482 |
2015 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
BRAF (V600E) mutations were detected in both the LCH and ECD areas.
|
26466952 |
2016 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, at least in the cases of LCH and ECD, there is a very high frequency of activating mutations in MAPK pathway genes, most notably BRAF-V600E, as well as MAP2K1, in LCH and NRAS in ECD.
|
26637772 |
2015 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, the development of resistance, as well as the potential risks of cutaneous and pancreatic cancers in patients with BRAF-V600E-mutated melanoma treated with single inhibitors, suggest the need for prospective trials with BRAF inhibitors, alone or in combination with other inhibitors of this pathway, for patients with refractory or multiply-relapsed LCH.
|
26637773 |
2015 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
The presence of the BRAF V600E mutation may facilitate discrimination of ECD from other non-Langerhans cell histiocytoses.
|
26858028 |
2016 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mutated BRAF (p.V600E) is observed in histiocyte-related diseases and dendritic cell-related diseases, including LCH.
|
27041734 |
2017 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
In the univariate analysis, the presence of concurrent BRAF(V600E) and NRAS(Q61K) (/R) mutations was significantly associated with patient outcome.These findings highlight the importance of NRAS genotyping of pulmonary LCH lesions because the use of BRAF inhibitors in this context may lead to paradoxical disease progression.
|
27076591 |
2016 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
The V600E mutation was detected in FFPE tissue samples from 32 LCH patients; our assay was able to identify mutations in four samples that gave inconclusive results, and ten that were negative, according to standard PCR and sequencing.
|
27094161 |
2016 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
In children with LCH, BRAF(V600E) mutation was associated with high-risk features, permanent injury, and poor short-term response to chemotherapy.
|
27382093 |
2016 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
We conclude that lymphoma-associated Langerhans cell histiocytosis is a clinically benign process that is not associated with BRAF V600E or MAP2K1 mutations and, as suggested by others, the designation Langerhans cell hyperplasia may be more appropriate.
|
28084334 |
2017 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
The use of BRAF V600E mutation-specific immunohistochemistry in pediatric Langerhans cell histiocytosis.
|
28219109 |
2018 |
|
rs113488022
|
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
We analyzed multiple tumor types including melanoma, colorectal carcinoma, papillary thyroid cancer, hairy cell leukemia, and Langerhans cell histiocytosis using both DNA-based sequencing and the BRAF V600E mutation-specific antibody.
|
29271794 |
2019 |