|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identification of BRAF and other MAPK pathway mutations in biopsies improves ECD diagnosis, allows for development of targeted treatments, and demonstrates that ECD is a neoplastic disorder.
|
28553668 |
2017 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
• To assess the degree of thoracic involvement in ECD with CT. • BRAF <sup>V600E</sup> mutation has a high association with right coronary artery sheathing.
|
29736852 |
2018 |
|
Split hand foot deformity 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
This retrospective case series seeks to redefine the clinicopathologic spectrum of pediatric CNS-JXG family neoplasms in the post-BRAF era, with a revised diagnostic algorithm to include pediatric ECD.
|
31685033 |
2019 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Split hand foot deformity 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
We review the radiologic hallmarks of ECD and demonstrate the radiologic manifestations of response to combined BRAF and MEK inhibitor treatment.
|
29485431 |
2018 |
|
Split hand foot deformity 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
A better understanding of the disease pathogenesis, including BRAF deregulation, in keeping with improved prognostic criteria, will provide novel suggestions for the management of ECD.
|
25744785 |
2015 |
|
Split hand foot deformity 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Vemurafenib has been used for a small number of patients harbouring this mutation; inhibition of BRAF activation by vemurafenib was highly beneficial in these cases of severe multisystemic and refractory ECD.
|
23597965 |
2013 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The <i>BRAF</i><sup>V600E</sup> mutation and BRAF inhibitor responsiveness characterize ∼50% of patients with the non-Langerhans cell histiocytosis (non-LCH) Erdheim-Chester disease (ECD).
|
31015311 |
2019 |
|
Split hand foot deformity 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
In addition, we identified the BRAF status and the HDL phenotype as independent determinants of the aortic involvement in ECD with a potential role of HDL in modulating the infiltration of blood CD14<sup>+</sup> cells into the aorta.
|
29930009 |
2018 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The B-Raf proto-oncogeneV600E mutation was not detected in ECD lesions.
|
31259822 |
2019 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Underlying BRAF and other MAPK pathway mutations are identified in approximately 50% of cases of ECD, which aids in diagnosis as well as enables novel targeted treatments.
|
30474563 |
2018 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report bilateral Achilles tendon xanthogramlomas in a 36-year-old male with biopsy-proven and B-RAF V600E-positive ECD.
|
27506209 |
2016 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BRAF V600E mutations were detected in 4/11 LCH and 4/4 ECD cases.
|
26110571 |
2015 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The BRAF V600E mutation was detected in both LCH and ECD lesions.
|
30265230 |
2018 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found the BRAF(V600E) mutation in 11 (69%) of 16 LCH lesions and in 9 (82%) of 11 ECD lesions.
|
24894769 |
2014 |
|
Split hand foot deformity 1
|
0.100 |
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 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
IMPLICATIONS FOR PRACTICE: Vemurafenib, an oral monotherapy targeting a mutation in BRAF, is the first U.S. Food and Drug Administration approval for the treatment of Erdheim-Chester disease (ECD).
|
30120160 |
2018 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The high frequency of BRAF(V600E) in LCH and ECD suggests a common origin of these diseases.
|
22879539 |
2012 |
|
Split hand foot deformity 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Treatment with BRAF inhibitors has markedly improved outcomes of ECD; however, this targeted therapy is expensive (estimated annual cost is $50,000).
|
30630516 |
2019 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We tested for BRAF V600E mutation in cfDNA from the plasma and urine of 6 ECD patients.
|
25003820 |
2014 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that cfDNA BRAF(V600E) mutational analysis in plasma and urine provides a convenient and reliable method of detecting mutational status and can serve as a noninvasive biomarker to monitor response to therapy in LCH and ECD.
|
25324352 |
2015 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
XLL are the most frequent cutaneous ECD manifestations and might be targeted both for pathology and determination of BRAF mutational status.
|
26785805 |
2016 |
|
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The coexistence of LCH and ECD in the same biopsy and the BRAF (V600E) mutation status in both histologic types support the recent re-classification of the histiocytic disorder into LCH, ECD, and "mixed histiocytosis", which reflects tumorigenesis for all three from a common progenitor cell.
|
26466952 |
2016 |