|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans-cell histiocytosis, associated in more than 50% of cases to BRAF(V600E) mutations in early multipotent myelomonocytic precursors or in tissue-resident histiocytes.
|
25744785 |
2015 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
More than half of all ECD patients carry the BRAF(V600E) mutation.
|
26197238 |
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 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
More than half of all ECD patients carry the BRAF(V600E) mutation.
|
26197238 |
2015 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Patients with Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD)</span> have a high frequency of BRAF(V600E) mutations and respond to RAF inhibitors.
|
25324352 |
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 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Vemurafenib has an objective and sustained efficacy in BRAF(V600E)-mutated ECD as second-line therapy.
|
25422482 |
2015 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The oncogenic BRAF(V600E) mutation is present in biopsies and in the peripheral blood from all patients with ECD who were evaluated and is associated with OIS.
|
24671772 |
2015 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans-cell histiocytosis, associated in more than 50% of cases to BRAF(V600E) mutations in early multipotent myelomonocytic precursors or in tissue-resident histiocytes.
|
25744785 |
2015 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
More than half of ECD patients carry the BRAF(V600E) mutation, an activating mutation of the proto-oncogene BRAF.
|
24532298 |
2014 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Erdheim-Chester disease (ECD) is a rare histiocytosis with a high prevalence of BRAF V600E mutation (>50% of patients).
|
25003820 |
2014 |
|
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 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Erdheim-Chester disease (ECD) is a rare histiocytosis with a high prevalence of BRAF V600E mutation (>50% of patients).
|
25003820 |
2014 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
More than half of ECD patients carry the BRAF(V600E) mutation, an activating mutation of the proto-oncogene BRAF.
|
24532298 |
2014 |
|
rs121913377
|
|
|
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 |
BRAF(V600E) mutations were detected in 13 of 24 (54%) ECD, 11 of 29 (38%) LCH, and none of the other histiocytoses.Four patients with ECD died of disease.
|
22879539 |
2012 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
BRAF(V600E) mutations were detected in 13 of 24 (54%) ECD, 11 of 29 (38%) LCH, and none of the other histiocytoses.Four patients with ECD died of disease.
|
22879539 |
2012 |
|
rs121913530
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was 100% concordance between tissue and urinary cfDNA genotype in treatment-naïve samples. cfDNA analysis facilitated identification of previously undescribed KRAS(G12S)-mutant ECD and dynamically tracked disease burden in patients treated with a variety of therapies.
|
25324352 |
2015 |
|
rs1225976306
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was 100% concordance between tissue and urinary cfDNA genotype in treatment-naïve samples. cfDNA analysis facilitated identification of previously undescribed KRAS(G12S)-mutant ECD and dynamically tracked disease burden in patients treated with a variety of therapies.
|
25324352 |
2015 |