|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The reported frequencies of BRAF<sup>V600E</sup> mutations vary in Chinese patients with LCH.
|
31441596 |
2019 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To test whether activated BRAF is sufficient for the development of LCH, we engineered mice to express BRAF V600E under the control of the human Langerin promoter.
|
31527903 |
2019 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Langerhans cell histiocytosis (LCH) is a clonal histiocytic disorder with recurrent mutations of BRAF and MAP2K1, but data on the impact of genetic features on progression and long-term sequelae are sparse.
|
30923995 |
2019 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
Primary oral manifestation of Langerhans cell histiocytosis refractory to conventional therapy but susceptible to BRAF-specific treatment: a case report and review of the literature.
|
31666812 |
2019 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An activating missense mutation in codon 600 of exon 15 (V600E) of BRAF gene has been identified in multiple neoplasms including melanoma, colorectal carcinoma, papillary thyroid carcinoma, hairy cell leukemia, and Langerhans cell histiocytosis.
|
29271794 |
2019 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To the best of our knowledge, this case is the first case to report two different BRAF mutations in tissues of a Langerhans cell histiocytosis and a papillary thyroid carcinoma co-existing in the thyroid gland.
|
30795755 |
2019 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
LCH samples showed mutually exclusive mutations of BRAF (8/20) and MAP2K1 (4/19), but no mutation of KMT2D, NRAS nor NOTCH1.
|
29194093 |
2018 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
Case reports suggest that BRAF<sup>V600E</sup>-positive LCH unresponsive to standard therapy might respond to B-Raf-MEK pathway inhibition, but rigorous randomized clinical trials have yet to be performed.
|
29107340 |
2018 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The poor specificity of lenient IHC analysis was attributable to weak, 1+ staining in both BRAF-mutated and wild-type LCH.
|
28219109 |
2018 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The BRAF V600E mutation was detected in both LCH and ECD lesions.
|
30265230 |
2018 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
Biomarker
|
disease |
BEFREE |
Selective BRAF inhibitors such as vemurafenib have become a treatment option in patients with Langerhans cell Histiocytosis (LCH).
|
29774135 |
2018 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with BRAF V600-mutant ECD or LCH were enrolled in an "other solid tumor" cohort of the VE-BASKET study, and they were enrolled in the present study.
|
29188284 |
2018 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the discovery of a novel BRAF kinase fusion, PACSIN2-BRAF, in a child with multisystem LCH.
|
28748614 |
2018 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
TP53 and U2AF1 mutations have been implicated in other myelomonocytic malignancies and we hypothesized that mutations in these genes may cosegregate in LCH patients according to BRAF mutation status.
|
29649018 |
2018 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
New somatic BRAF splicing mutation in Langerhans cell histiocytosis.
|
28679432 |
2017 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DNA samples extracted from biopsied LCH lesions from 12 patients were tested for BRAF V600E status.
|
28582647 |
2017 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a 2-year-old boy, the youngest patient in the literature so far, who was diagnosed with concomitant BRAF mutation-positive LCH and ECD.
|
28182116 |
2017 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this retrospective monocentric study in a national reference centre is to describe the clinical characteristics, quality of life, BRAF mutation status and outcomes of skin involvement in adult patients with Langerhans cell histiocytosis.
|
28421232 |
2017 |
|
Histiocytosis, Langerhans-Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutated BRAF (p.V600E) is observed in histiocyte-related diseases and dendritic cell-related diseases, including LCH.
|
27041734 |
2017 |