|
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 |
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 |
BRAF(V600E) mutation was present in all the biopsy and peripheral blood samples from patients with ECD and in none of the controls.
|
24671772 |
2015 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
We performed molecular analysis of BRAF in the largest cohort of ECD patients studied to date followed by N/KRAS, PIK3CA, and AKT1 mutational analysis in BRAF wild-type patients.
|
25150293 |
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 |
We recently reported short-term efficacy of a BRAF inhibitor (vemurafenib) in three patients with multisystemic ECD.
|
25422482 |
2015 |
|
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 |
More recently, the BRAF-inhibitor vemurafenib has been used in small groups of ECD patients with optimal efficacy in all treated cases.
|
25865950 |
2015 |
|
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 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
• 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 |