|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
BRAF V600E is the predominant oncogenic driver of L-group histiocytoses, which includes Erdheim-Chester disease (ECD); however, limited data exist on the prevalence of this mutation in sporadic XG family lesions.
|
31639332 |
2019 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The BRAF inhibitor vemurafenib is approved by the U.S. Food and Drug Administration (FDA) for patients with ECD harboring a <i>BRAF</i> V600E mutation.
|
31740567 |
2019 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD.
|
31685033 |
2019 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We present a patient with <i>BRAF</i>-V600E-mutant ECD with a classical pyramido-ataxic onset of disease who improved after prompt diagnosis with vemurafenib treatment as first-line therapy.
|
31748352 |
2019 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Therefore, the patient was determined to have ECD with a typical BRAF V600E mutation, as well as primary myelofibrosis, with the latter diagnosis manifesting clinically over one year after the JAK2 V617F was first detected in ctDNA.
|
29565699 |
2018 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The BRAF V600E mutation was detected in both LCH and ECD lesions.
|
30265230 |
2018 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Cladribine has moderate clinical efficacy in the treatment of ECD and can be considered a treatment option in cases without the BRAF V600E mutation.
|
28253394 |
2017 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We report bilateral Achilles tendon xanthogramlomas in a 36-year-old male with biopsy-proven and B-RAF V600E-positive ECD.
|
27506209 |
2016 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both.
|
27863426 |
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 |
The presence of the BRAF V600E mutation may facilitate discrimination of ECD from other non-Langerhans cell histiocytoses.
|
26858028 |
2016 |
|
rs113488022
|
|
|
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 |
|
rs113488022
|
|
|
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 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Vemurafenib has an objective and sustained efficacy in BRAF(V600E)-mutated ECD as second-line therapy.
|
25422482 |
2015 |
|
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 |
|
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 |
|
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 |