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rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Diagnostically, the BRAF(V600E) mutation is a powerful molecular marker for papillary thyroid carcinoma and, quite possibly, hairy cell leukemia as well.
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22369373 |
2012 |
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rs113488022
|
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|
0.100 |
GeneticVariation |
BEFREE |
Identification of the BRAF-V600E kinase mutation as the genetic cause of HCL has opened the way, in the relapsed/refractory experimental setting, to targeted and non-myelotoxic effective strategies that are based on inhibition of BRAF with vemurafenib, co-inhibition of BRAF and its target MEK with dabrafenib and trametinib, and BRAF inhibition with vemurafenib combined with anti-CD20 immunotherapy.
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31187521 |
2019 |
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rs113488022
|
|
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0.100 |
GeneticVariation |
BEFREE |
RAF is among the most frequently mutated kinases, where BRAF V600E mutation occurs in most hairy cell leukemias (HCL) and half of malignant melanomas.
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25034364 |
2014 |
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rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation.
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22210875 |
2012 |
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rs113488022
|
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0.100 |
GeneticVariation |
BEFREE |
Our results confirm that BRAF V600E-positive HCL is a relatively rare disorder in the Japanese leukemia patient population.
|
30043333 |
2018 |
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rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Hairy cell leukemia (HCL) is a rare, low-grade mature B-cell neoplasm with a characteristic clinical, morphological, immunophenotypic, and more recently described molecular (BRAF p.V600E mutation) profile.
|
30197362 |
2018 |
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rs113488022
|
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|
0.100 |
GeneticVariation |
BEFREE |
A high degree of correlation was noted between the presence of BRAF V600E and established diagnostic criteria in 26/27 patients with HCL/HCL variant.
|
22313586 |
2012 |
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rs113488022
|
|
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0.100 |
GeneticVariation |
BEFREE |
An extensive number of studies have documented the V600E mutation in nearly all HCL patients, but not in similar hematologic malignancies.
|
23892906 |
2013 |
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rs113488022
|
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0.100 |
GeneticVariation |
BEFREE |
The discovery of the BRAF V600E mutation in most cases of classical hairy cell leukemia opens up unique opportunities for tumor specific treatment of HCL targeting the MEK/ERK signaling pathway.
|
26614903 |
2015 |
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rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The BRAF V600E mutation has recently been described in all cases of hairy cell leukaemia (HCL).
|
21910720 |
2011 |
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rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, the BRAF V600E mutation was identified in most patients with classical HCL, resulting in constitutive mitogen-activated protein kinase pathway activation; impressive responses are achieved in heavily pre-treated patients with BRAF inhibition.
|
28146266 |
2017 |
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rs113488022
|
|
|
0.100 |
GeneticVariation |
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 |
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rs113488022
|
|
|
0.100 |
GeneticVariation |
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 |
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rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The detection of BRAF V600E by IHC is useful in the distinction of HCLs from other splenic-based lymphomas, although the identification of at least rare SMZLs containing this abnormality illustrates the continuing need for a multiparameter approach to diagnosis.
|
26071465 |
2015 |
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rs113488022
|
|
|
0.100 |
GeneticVariation |
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 |
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rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Diagnosis of HCL is based on morphological evidence of hairy cells, an HCL immunologic score of 3 or 4 based on the CD11C, CD103, CD123, and CD25 expression, the trephine biopsy which makes it possible to specify the degree of tumoral medullary infiltration and the presence of BRAF V600E somatic mutation.
|
29110361 |
2017 |
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rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, the BRAF V600E mutation was uniformly identified in one HCL series, which may provide insights into the pathogenic mechanisms.
|
22212971 |
2012 |
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rs113488022
|
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|
0.100 |
GeneticVariation |
BEFREE |
The presence of the BRAF c.1799T>A V600E mutation was recently described in cases of hairy cell leukemia (HCL) but not in other common lymphomas.
|
23161722 |
2012 |
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rs113488022
|
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|
0.100 |
GeneticVariation |
BEFREE |
On the basis of these results, an assay with high analytic sensitivity is required for the clinical detection of V600E mutations in HCL specimens.
|
24503706 |
2015 |
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rs113488022
|
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|
0.100 |
GeneticVariation |
BEFREE |
Areas covered: Herein the authors review the role of BRAF V600E and RAF-MEK-ERK signaling in the pathogenesis of HCL, anecdotal clinical reports of BRAF inhibitor monotherapy in management of relapsed or refractory HCL, larger phase 2 trials investigating efficacy of BRAF inhibitor therapy for HCL, adverse effects commonly associated with BRAF inhibitor therapy, including cutaneous toxicity, and mechanisms of therapeutic resistance.
|
30782032 |
2019 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In 2011, the V600E mutation of the BRAF gene in exon 15 was identified in HCL; being present in HCL, it is absent in the variant form of HCL (HCL-v) and in splenic red pulp lymphoma (SRPL), two entities related to HCL.
|
24994538 |
2014 |
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rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation.
|
22133769 |
2012 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Accompanying mutations of the KLF2 transcription factor or the CDKN1B/p27 cell cycle inhibitor are recurrent in 16% of patients with HCL and likely cooperate with BRAF-V600E in HCL pathogenesis.
|
28297625 |
2017 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
PCR and IHC were cheaper and identified V600E in 100 % of HCL cases.
|
30872385 |
2019 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The discovery of the BRAF V600E mutation in most cases of classical hairy cell leukemia opens up unique opportunities for tumor specific treatment of HCL targeting the MEK/ERK signaling pathway.
|
26614903 |
2015 |