|
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 |
|
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 |
|
rs121913377
|
|
|
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 |
|
rs121913377
|
|
|
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 |
|
rs121913377
|
|
|
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 |
|
rs121913377
|
|
|
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 |
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 |
|
rs121913377
|
|
|
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 |
|
rs121913377
|
|
|
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 |
|
rs121913377
|
|
|
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 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
BRAF (V600E) mutations were detected in both the LCH and ECD areas.
|
26466952 |
2016 |
|
rs121913377
|
|
|
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 |
|
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 |
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 |
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 |