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Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation.
|
22133769 |
2012 |
|
Hairy Cell Leukemia
|
|
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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Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
V600E</span> mutation was identified in 94%, 89% and 72% of HCL cases by F-SSCP, HRM and Sanger sequencing, respectively.
|
25938346 |
2015 |
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Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
A BRAF V600E mutation was detected in 17 (77.3%) of 22 HCL cases by PCR.
|
25511147 |
2015 |
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Hairy Cell Leukemia
|
|
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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Hairy Cell Leukemia
|
|
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 |
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Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Advanced molecular techniques have identified distinct molecular aberrations in the Raf/MEK-ERK pathway and BRAF (V600E) mutations that drive the proliferation and survival of HCL B cells.
|
24652320 |
2014 |
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Hairy Cell Leukemia
|
|
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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Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Application of a BRAF V600E mutation-specific antibody for the diagnosis of hairy cell leukemia.
|
22531170 |
2012 |
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Hairy Cell Leukemia
|
|
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 |
|
Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation.
|
22210875 |
2012 |
|
Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
BRAF V600E is the genetic lesion underlying hairy-cell leukemia.
|
26352686 |
2015 |
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Hairy Cell Leukemia
|
|
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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Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
CONCLUSIONS; The BRAF V600E mutation was present in all patients with HCL who were evaluated.
|
21663470 |
2011 |
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Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Conversely, all 44 cases with neoplasms mimicking hair</span>y cell leukemia were devoid of BRAF-V600E</span> and none expressed phospho-ERK.
|
23349307 |
2013 |
|
Hairy Cell Leukemia
|
|
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 |
|
Hairy Cell Leukemia
|
|
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.
|
22369373 |
2012 |
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Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Discovery of the BRAF V600E mutation as a disease-defining genetic event in hairy cell leukemia can be helpful in both differential diagnosis and treatment of this disease.
|
24789721 |
2014 |
|
Hairy Cell Leukemia
|
|
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.
|
31187521 |
2019 |
|
Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
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
|
|
0.100 |
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 |
|
Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, immunohistochemical detection of the BRAF V600E mutant protein is highly sensitive and specific for the diagnosis of HCL.
|
25120816 |
2014 |
|
Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
In this issue of Blood, Pettirossi et al, including Drs Tiacci and Falini, who led the effort in 2011 defining the BRAF-V600E driving mutation in hairy cell leukemia (HCL),provide extensive laboratory studies showing that inhibitors of BRAF-V600E and/or mitogen-activated protein kinase kinase (MEK) reach their targets and cause HCL cell death
|
25700421 |
2015 |
|
Hairy Cell Leukemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Many such genetic events have already demonstrated clinical utility, such as BRAF V600E that confers sensitivity to vemurafenib in patients with hairy cell leukemia.
|
29702524 |
2018 |
|
Hairy Cell Leukemia
|
|
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 |