Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE The recent application of high-throughput sequencing to NHL not only advances the understanding of disease pathogenesis and classification, but allows the discovery of new drug targets, such as BRAF gene inhibition in hairy cell leukemia. 27910030 2017
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease 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
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE To the best of our knowledge, this is the first case of a co-occurring BRAF positive melanoma and HCL to be reported in a chemotherapy-naïve patient. 30680261 2018
CUI: C0023443
Disease: Hairy Cell Leukemia
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
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease 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
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE The precise cellular origin of HCL remains elusive but BRAF mutations were detected in hematopoietic stem cells of patients with HCL. 26154707 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
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
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease 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
CUI: C0023443
Disease: Hairy Cell Leukemia
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
CUI: C0023443
Disease: Hairy Cell Leukemia
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
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE The intestinal lymphoma bears the BRAF V600E mutant, which is the molecular hallmark of HCL, being implicated in its pathogenesis. 31354304 2019
CUI: C0023443
Disease: Hairy Cell Leukemia
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
CUI: C0023443
Disease: Hairy Cell Leukemia
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
CUI: C0023443
Disease: Hairy Cell Leukemia
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
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease 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
CUI: C0023443
Disease: Hairy Cell Leukemia
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
CUI: C0023443
Disease: Hairy Cell Leukemia
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
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease 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
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 AlteredExpression disease BEFREE We assessed the safety and activity of the oral BRAF inhibitor vemurafenib in patients with hairy-cell leukemia that had relapsed after treatment with a purine analogue or who had disease that was refractory to purine analogues. 26352686 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE An overview of the major forms of treatment of HCL (cytostatic drugs, specific BRAF inhibitors, B cell-specific antibodies) is given. 31282776 2019
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE In order to investigate the suitability of MinION sequencing on formalin-fixed paraffin-embedded samples, the presence and frequency of BRAF c.1799T > A mutation was investigated in two archival tissue specimens of Hairy cell leukemia and Hairy cell leukemia Variant. 29238890 2018
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Mutation of BRAF V600E was pronounced in HCL, but "hairiness" was not linked to the mutation. 31538423 2019
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE Patients' leukemic cells exposed ex vivo to BRAF inhibitors are spoiled of their HCL identity and then undergo apoptosis. 28297625 2017
CUI: C0023443
Disease: Hairy Cell Leukemia
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
CUI: C0023443
Disease: Hairy Cell Leukemia
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