Hairy Cell Leukemia
|
0.600 |
CausalMutation
|
disease |
CGI |
|
|
|
Hairy Cell Leukemia
|
0.600 |
SomaticCausalMutation
|
disease |
ORPHANET |
In immunohistologic and Western blot studies, HCL cells expressed phosphorylated MEK and ERK (the downstream targets of the BRAF kinase), indicating a constitutive activation of the RAF-MEK-ERK mitogen-activated protein kinase pathway in HCL.
|
21663470 |
2011 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies.
|
21910720 |
2011 |
Hairy Cell Leukemia
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
In immunohistologic and Western blot studies, HCL cells expressed phosphorylated MEK and ERK (the downstream targets of the BRAF kinase), indicating a constitutive activation of the RAF-MEK-ERK mitogen-activated protein kinase pathway in HCL.
|
21663470 |
2011 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Diagnostically, the BRAF(V600E) mutation is a powerful molecular marker for papillary thyroid carcinoma and, quite possibly, hairy cell leukemia as well.
|
22369373 |
2012 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Importantly, SkE resensitized the PLX-4032-resistant 451Lu melanoma cell line (451Lu-R) and was more efficient than U0126, a MEK inhibitor, and PLX-4032 (PLX) at inducing the apoptosis of two hairy cell leukemia (HCL) patient samples carrying the B-Raf-V600E mutation.
|
23518796 |
2012 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In this study we investigated the application of a BRAF V600E mutation-specific antibody (clone VE1) to differentiate HCL from HCL mimics, such as HCL variant and splenic marginal zone lymphoma.
|
22531170 |
2012 |
Hairy Cell Leukemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our results suggest that HCLv and IGHV4-34(+) HCLs have a different pathogenesis than HCLc and that a significant minority of other HCLc are also wild-type for BRAF V600.
|
22210875 |
2012 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, high resolution melting with confirmatory Sanger sequencing are useful methods that can be employed in routine diagnostic laboratories to detect BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders.
|
22133769 |
2012 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Moreover, our pyrosequencing-based assay provides a convenient, rapid, sensitive, and quantitative tool for the detection of BRAF p.V600E mutations in HCL for clinical diagnostic testing.
|
22706871 |
2012 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BRAF-V600E was detected at different time points during the disease course, even after therapy, pointing to its pivotal role in HCL pathogenesis and maintenance of the leukemic clone.
|
22028477 |
2012 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the BRAF V600E mutation is present in all patients with HCL and that, in combination with clinical and morphologic features, represents a reliable molecular marker for this condition.
|
22072557 |
2012 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Among lymphoproliferative disorders, BRAF mutations are restricted to HCL.
|
23161722 |
2012 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recently, the BRAF V600E mutation was uniformly identified in one HCL series, which may provide insights into the pathogenic mechanisms.
|
22212971 |
2012 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Thus, in conjunction with prior data, our results suggest incorporation of BRAF V600E mutation analysis in the diagnostic workup of HCL cases.
|
22246856 |
2012 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Especially, BRAF mutations have been detected in almost all patients with HCL that may have implications for pathogenesis, diagnosis, and targeted therapy.
|
22541613 |
2012 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Detection of the BRAF V600E mutation is therefore a useful adjunct in the differential diagnosis of HCL and HCL variant and highlights the value of a multifaceted approach to the diagnosis of this malignancy.
|
22313586 |
2012 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Besides confirming the constant presence of BRAF-V600E in all patients with hairy cell leukemia, we observed ubiquitous phospho-ERK expression in this malignancy.
|
23349307 |
2013 |
Hairy Cell Leukemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Several genetic alterations are intuitively "druggable" with existing agents, for example, kinase-activating lesions in high-risk B-cell ALL, NOTCH1 in both leukemia and lymphoma, and BRAF in hairy cell leukemia.
|
24041576 |
2013 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the presence of pERK as detected by immunohistochemical staining is a useful surrogate marker for BRAF V600E in the diagnosis of HCL.
|
23211289 |
2013 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The thymidine kinase inhibitor vemurafenib, which inhibits the V600E mutant of BRAF, was reported to induce a CR in multiply relapsed and refractory HCL, with nearly complete clearing of MRD.
|
23892906 |
2013 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In contrast with the classic form, variant hairy cell leukemia (HCLv) responds poorly to single-agent purine analogs, expresses unmutated BRAF, has shorter overall survival, and lacks effective standard therapy.
|
24277451 |
2013 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BRAF mutation is seen in melanoma, papillary thyroid carcinoma (including papillary thyroid carcinoma arising from ovarian teratoma), ovarian serous tumours, colorectal carcinoma, gliomas, hepatobiliary carcinomas and hairy cell leukaemia.
|
23594689 |
2013 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Unearthing of the BRAF mutation in self-renewing hematopoietic stem cells reveals an unexpected origin for hairy cell leukemia-a mature B cell malignancy-and a potential new therapeutic target (Chung et al., this issue).
|
24871129 |
2014 |
Hairy Cell Leukemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Using this BRAF V600E mutation specific antibody, this immunohistochemical study has 100% sensitivity and 100% specificity for the diagnosis of HCL in our cohort.
|
25120816 |
2014 |