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 |
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 |
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 |
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 |
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 |
• 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 |
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 |
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 |
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 |
The BRAF V600E mutation was detected in both LCH and ECD lesions.
|
30265230 |
2018 |
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 |
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 |
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients with BRAF V600-mutant ECD or LCH were enrolled in an "other solid tumor" cohort of the VE-BASKET study, and they were enrolled in the present study.
|
29188284 |
2018 |
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 |
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 |
Finally, droplet digital PCR using a probe specific for this novel mutation detected the complex BRAF mutation in both the 2000 and 2008 lesions, indicating this case to be ECD with a novel underlying BRAF p.Thr599_Val600delinsArgGlu mutation.
|
28455460 |
2017 |
Split hand foot deformity 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
This case contributes to the ongoing efforts of simultaneous BRAF/MEK inhibition as a promising strategy in ECD.
|
27940476 |
2017 |
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
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 |
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 |
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 |
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 |
Split hand foot deformity 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we retrospectively evaluated the clinical and pathologic characteristics, presence of the BRAF V600E mutation, treatment options, and outcomes of Chinese patients diagnosed with ECD at our center.
|
26858028 |
2016 |
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 |