|
rs113488022
|
|
|
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
|
|
|
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
BRAF (V600E) mutations were detected in both the LCH and ECD areas.
|
26466952 |
2016 |
|
rs113488022
|
|
|
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 |
|
rs121913377
|
|
|
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 |
|
rs121913377
|
|
|
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 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The presence of the BRAF V600E mutation may facilitate discrimination of ECD from other non-Langerhans cell histiocytoses.
|
26858028 |
2016 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
BRAF (V600E) mutations were detected in both the LCH and ECD areas.
|
26466952 |
2016 |
|
rs121913377
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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 |
|
rs121913377
|
|
|
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 |
|
rs121913377
|
|
|
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 |
|
rs121913377
|
|
|
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 |
|
rs121913377
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
BRAF(V600E) was not limited to LCH and was detected more frequently in histiocytic sarcoma.
|
24720374 |
2014 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis.
|
24982505 |
2014 |
|
rs113488022
|
|
|
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
|
|
|
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 |