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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 |
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 |
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 |
Here we present an unusual case of a patient with TP53-mutated chronic lymphocytic leukemia (CLL) treated with a PI3Kδ inhibitor evolving to clonally related Langerhans cell histiocytosis (LCH) with acquired BRAF V600E and STK11 mutations and loss of expression of PAX-5 and other examined B cell markers.
|
31317311 |
2019 |
|
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 |
|
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 |
The BRAF V600E mutation was detected in both LCH and ECD lesions.
|
30265230 |
2018 |
|
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 |
A breakthrough in understanding the pathogenesis of LCH occurred in 2010 when a gain-of-function mutation in BRAF (V600E) was identified in more than half of LCH patient samples.
|
30281871 |
2018 |
|
Histiocytosis, Langerhans-Cell
|
|
0.100 |
GeneticVariation
|
BEFREE |
Vemurafenib currently has Food and Drug Administration approval for the treatment of BRAF V600E+ metastatic melanoma in adults, but recent discoveries of BRAF V600E in more than half of tested Langerhans cell histiocytosis lesions have prompted clinical trials of vemurafenib therapy for children with refractory, multisystem Langerhans cell histiocytosis.
|
30216522 |
2018 |
|
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 |
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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 |
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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 |
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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 |
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 |
|
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 |
|
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 |
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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 |
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 |
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 |
High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis.
|
24982505 |
2014 |
|
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 |