|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
The use of BRAF V600E mutation-specific immunohistochemistry in pediatric Langerhans cell histiocytosis.
|
28219109 |
2018 |
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
BRAF V600E and Pten deletion in mice produces a histiocytic disorder with features of Langerhans cell histiocytosis.
|
31527903 |
2019 |
|
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 |
|
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 |
|
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 |
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
The BRAF V600E mutation was detected in both LCH and ECD lesions.
|
30265230 |
2018 |
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
BRAF(V600E) was not limited to LCH and was detected more frequently in histiocytic sarcoma.
|
24720374 |
2014 |
|
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 |
|
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 |
|
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 |
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis.
|
24982505 |
2014 |
|
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 |
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
A mutational study by massive sequencing identified the Val600Glu (V600E) BRAF mutation in the Langerhans cell histiocytosis lesions, but no molecular alterations were found in the reticulohistiocytoma lesions.
|
31006900 |
2019 |
|
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 |
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation.
|
31685033 |
2019 |
|
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 |
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
BRAF (V600E) mutations were detected in both the LCH and ECD areas.
|
26466952 |
2016 |
|
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 |
|
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 |
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our report is the first to identify the rare, variant BRAF V600D</span> mutation in LCH, and provides support for constitutively activated BRAF oncogene-induced cell senescence as a mechanism of regression in congenital, benign LCH.
|
22996177 |
2013 |
|
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 |
|
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 |
|
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 |
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
Patients with Langerhans cell histiocytosis (LCH) harbor BRAF V600E and activating mutations of MAP2K1/MEK1 in 50% and 25% of cases, respectively.
|
29768711 |
2018 |
|
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 |